Skip to main content

Table 1 Mutation severity prediction score thresholds used for each method, based on stabilisation of group numbers above the recommended deleterious threshold

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

Method Standard Deleterious Threshold Threshold for Mutation Severity Score of 1 Threshold for Mutation Severity Score of 2
SIFT Score < 0.05 Score > 0.025 Score ≤ 0.025
PolyPhen2 Score ≥ 0.5 Score < 0.80 Score ≥ 0.80
Mutation Assessor Score > 1.9 Score < 2.7 Score ≥ 2.7
FATHMM Score ≤ −1.5 Score ≥ −8.5 Score < −8.5
Condel Score > 0.522 Score ≤ 0.672 Score > 0.672
CADD Score ≥ 15 Score < 27.5 Score ≥ 27.5