D113G (p.Asp113Gly) variant of G6PD (P11413)
D113G (p.Asp113Gly) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D113G (p.Asp113Gly) variant details
- p.Asp113Gly
- ESP rs370451233
- ExAC rs370451233
- TOPMed rs370451233
- gnomAD rs370451233
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.43
- CADD 21.20
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available