D146N (p.Asp146Asn) variant of ATP6V0A4 (Q9HBG4)
D146N (p.Asp146Asn) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D146N (p.Asp146Asn) variant details
- p.Asp146Asn
- Ensembl rs1806870007
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.32
- CADD 24.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available