G49W (p.Gly49Trp) variant of ATP6V1B1 (P15313)
G49W (p.Gly49Trp) in ATP6V1B1 (P15313) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G49W (p.Gly49Trp) variant details
- p.Gly49Trp
- ESP rs369442690
- ExAC rs369442690
- TOPMed rs369442690
- gnomAD rs369442690
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available