A116T (p.Ala116Thr) variant of ATP6V0A4 (Q9HBG4)
A116T (p.Ala116Thr) in ATP6V0A4 (Q9HBG4) 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 0.36 / 1. The record also includes population frequency data and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59473
- Ensembl rs1806902660
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.36
- MetaSVM -0.59
- CADD 19.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available