G11W (p.Gly11Trp) variant of ATP6V1B1 (P15313)
G11W (p.Gly11Trp) in ATP6V1B1 (P15313) is a missense 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.
G11W (p.Gly11Trp) variant details
- p.Gly11Trp
- gnomAD 2-70935985-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available