D2G (p.Asp2Gly) variant of ATP6V1A (P38606)
D2G (p.Asp2Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- Ensembl rs781561674
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.49
- CADD 26.00
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available