G20D (p.Gly20Asp) variant of ATP6V1B1 (P15313)
G20D (p.Gly20Asp) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- gnomAD 2-70936013-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.44
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available