V52L (p.Val52Leu) variant of ATP6V1B1 (P15313)
V52L (p.Val52Leu) in ATP6V1B1 (P15313) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- TOPMed rs1553416800
- gnomAD rs1553416800
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.71
- CADD 22.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available