A21T (p.Ala21Thr) variant of ATP6V1B1 (P15313)
A21T (p.Ala21Thr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 2-70936015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.14
- CADD 5.77
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available