Y41H (p.Tyr41His) variant of ATP6V1B1 (P15313)
Y41H (p.Tyr41His) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- ExAC rs782003525
- gnomAD rs782003525
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.82
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available