L54R (p.Leu54Arg) variant of ATP6V1B1 (P15313)
L54R (p.Leu54Arg) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L54R (p.Leu54Arg) variant details
- p.Leu54Arg
- gnomAD 2-70943700-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available