V52A (p.Val52Ala) variant of ATP6V0A4 (Q9HBG4)
V52A (p.Val52Ala) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- cosmic curated COSV59477
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.73
- MetaSVM 0.48
- CADD 27.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available