D30A (p.Asp30Ala) variant of G6PD (P11413)
D30A (p.Asp30Ala) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D30A (p.Asp30Ala) variant details
- p.Asp30Ala
- TOPMed rs1166565982
- gnomAD rs1166565982
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.41
- CADD 21.30
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available