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Table 4 Summary of effects of mutations predicted by the automated methods

From: Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

 

rBAT

b(0+)AT

SIFT – Tolerated

23

11

SIFT – Damaging

70

48

PolyPhen2 (HumVar) – benign

12

14

PolyPhen2 (HumVar) – possibly damaging

15

16

PolyPhen2 (HumVar) – probably damaging

66

29

PolyPhen2 (HumDiv) – benign

8

15

PolyPhen2 (HumDiv) – possibly damaging

11

4

PolyPhen2 (HumDiv) – probably damaging

74

40

MutationAssessor – neutral

2

4

MutationAssessor – low

17

6

MutationAssessor – medium

40

29

MutationAssessor - high

34

20

FATHMM – Neutral

0

0

FATHMM – Damaging

93

59

Condel - Neutral

1

7

Condel – Damaging

92

52

CADD- Neutral

5

6

CADD - Deleterious

88

53