D100N (p.Asp100Asn) variant of G6PD (P11413)
D100N (p.Asp100Asn) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D100N (p.Asp100Asn) variant details
- p.Asp100Asn
- gnomAD rs1557230643
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.30
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available