S46W (p.Ser46Trp) variant of ATP6V1B1 (P15313)
S46W (p.Ser46Trp) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S46W (p.Ser46Trp) variant details
- p.Ser46Trp
- rs1553416787
- gnomAD 2-70943670-TGTGCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 32.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available