L54M (p.Leu54Met) variant of ATP6V1B1 (P15313)
L54M (p.Leu54Met) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L54M (p.Leu54Met) variant details
- p.Leu54Met
- TOPMed rs1267945831
- gnomAD rs1267945831
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.69
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available