A21G (p.Ala21Gly) variant of ATP6V0A4 (Q9HBG4)
A21G (p.Ala21Gly) 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.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs754242050
- gnomAD rs754242050
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.76
- MetaSVM 0.73
- CADD 27.90
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available