A28G (p.Ala28Gly) variant of ATP6V1B1 (P15313)
A28G (p.Ala28Gly) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- gnomAD 2-70936037-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available