L51W (p.Leu51Trp) variant of ATP6V1B1 (P15313)
L51W (p.Leu51Trp) 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.
L51W (p.Leu51Trp) variant details
- p.Leu51Trp
- rs2104804994
- gnomAD 2-70943686-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available