Skip to main content
. 2021 Sep 24;24(2):186–190. doi: 10.4103/aja202160

Supplementary Table 2.

In silico analysis of the mutations

Variants REVEL Polyphen-2 SIFT Mutation taster CADD Mutation assessor MetalR LRT MetaSVM FATHMM
MBOAT1 (c. 770C>T) 0.59 (LDC) 0.961 (D) 0.01 (D) Damage 24 0.769 (M) 0.518 (D) 0.000046 (D) −0.106 (T) −0.69 (T)
TYW1 (c. 524C>T) 0.73 (LDC) 0.982 (D) 0.003 (D) Damage 25 0.769 (M) 0.621 (D) 0.00 (D) 0.353 (D) −1.19 (T)

SIFT: sorting intolerant from tolerant; MBOAT1: membrane-bound O-acyltransferase domain-containing 1; CADD: Combined Annotation Dependent Depletion; REVEL: Rare Exome Variant Ensemble Learner; LRT: Likelihood Ratio Test; FATHMM: Functional Analysis Through Hidden Markov Models; MetaSVM: Meta-analytic support vector machine; LDC: Likely disease causing; D: deleterious; M: medium; T: tolerance; TYW1: tRNA-yW synthesizing protein 1 homolog