A28A (p.Ala28Ala) variant of ATP6V1B1 (P15313)
A28A (p.Ala28Ala) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs374746874
- gnomAD 2-70936038-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.22
- Population evidence available
- Structural context available
- Literature evidence available