D11G (p.Asp11Gly) variant of ATP6V1A (P38606)
D11G (p.Asp11Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D11G (p.Asp11Gly) variant details
- p.Asp11Gly
- gnomAD 3-113778785-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.48
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available