A116G (p.Ala116Gly) variant of ATP6V0A4 (Q9HBG4)
A116G (p.Ala116Gly) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A116G (p.Ala116Gly) variant details
- p.Ala116Gly
- ExAC rs757190930
- gnomAD rs757190930
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.60
- MetaSVM 0.21
- CADD 22.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available