L51L (p.Leu51Leu) variant of ATP6V1B1 (P15313)
L51L (p.Leu51Leu) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- gnomAD 2-70943692-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 10.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available