A78D (p.Ala78Asp) variant of G6PD (P11413)
A78D (p.Ala78Asp) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A78D (p.Ala78Asp) variant details
- p.Ala78Asp
- TOPMed rs1224465881
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.47
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available