V19M (p.Val19Met) variant of ATP6V0A4 (Q9HBG4)
V19M (p.Val19Met) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- cosmic curated COSV10811
- TOPMed rs1159301747
- gnomAD rs1159301747
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.56
- MetaSVM 0.31
- CADD 24.30
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available