R8M (p.Arg8Met) variant of ATP6V1B1 (P15313)
R8M (p.Arg8Met) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- TOPMed rs1553415242
- gnomAD rs1553415242
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.41
- CADD 22.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available