D39V (p.Asp39Val) variant of ATP6V0A4 (Q9HBG4)
D39V (p.Asp39Val) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
D39V (p.Asp39Val) variant details
- p.Asp39Val
- TOPMed rs1257857936
- gnomAD rs1257857936
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 1.05
- CADD 34.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available