A164V (p.Ala164Val) variant of ATP6V0A4 (Q9HBG4)
A164V (p.Ala164Val) 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.
A164V (p.Ala164Val) variant details
- p.Ala164Val
- rs1277901726
- gnomAD rs1277901726
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.57
- MetaSVM -0.34
- CADD 21.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available