T40A (p.Thr40Ala) variant of ETFA (P13804)

Name: ETFA T40A (p.Thr40Ala) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

T40A (p.Thr40Ala) in ETFA (P13804) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.

T40A (p.Thr40Ala) variant details

p.Thr40Ala
NCI-TCGA Cosmic COSV5121
gnomAD rs2039810581
Variant assessed as somatic; moderate impact.
Missense
Variant Prioritization Score for Impact Estimate 0.237
REVEL 0.23
ESM-1b 0.00
AlphaMissense 0.09
CADD 17.80
UniProt: Variant assessed as somatic; moderate impact.
Most common in the African/African-American population (allele frequency 2.4e-05)
Structural context available