C45Y (p.Cys45Tyr) variant of ATP6V1B1 (P15313)
C45Y (p.Cys45Tyr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C45Y (p.Cys45Tyr) variant details
- p.Cys45Tyr
- gnomAD rs1553416788
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.59
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available