A28P (p.Ala28Pro) variant of ATP6V1B1 (P15313)
A28P (p.Ala28Pro) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- gnomAD 2-70936036-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.71
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available