A21S (p.Ala21Ser) variant of ATP6V1B1 (P15313)
A21S (p.Ala21Ser) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 2-70936015-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.12
- CADD 0.37
- PolyPhen-2 0.12
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available