L12S (p.Leu12Ser) variant of ATP6V1B1 (P15313)
L12S (p.Leu12Ser) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- rs782052865
- gnomAD 2-70935980-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 13.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available