L51G (p.Leu51Gly) variant of ATP6V1B1 (P15313)
L51G (p.Leu51Gly) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L51G (p.Leu51Gly) variant details
- p.Leu51Gly
- gnomAD 2-70943686-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 26.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available