G10W (p.Gly10Trp) variant of ATP6V1B1 (P15313)
G10W (p.Gly10Trp) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- rs2104795239
- gnomAD 2-70935978-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available