D55Y (p.Asp55Tyr) variant of ATP6V1B1 (P15313)
D55Y (p.Asp55Tyr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- gnomAD rs1553416804
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.85
- CADD 27.50
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available