L54L (p.Leu54Leu) variant of ATP6V1B1 (P15313)
L54L (p.Leu54Leu) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- gnomAD 2-70943699-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available