W43G (p.Trp43Gly) variant of H6PD (O95479)
W43G (p.Trp43Gly) in H6PD (O95479) 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 0.85 / 1. The record also includes population frequency data and structural context.
W43G (p.Trp43Gly) variant details
- p.Trp43Gly
- ExAC rs771086344
- TOPMed rs771086344
- gnomAD rs771086344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.10
- CADD 31.00
- 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 4.8e-05)
- Structural context available