V47M (p.Val47Met) variant of ATP6V1B1 (P15313)
V47M (p.Val47Met) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- ExAC rs782128390
- TOPMed rs782128390
- gnomAD rs782128390
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.81
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available