D114G (p.Asp114Gly) variant of G6PD (P11413)
D114G (p.Asp114Gly) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D114G (p.Asp114Gly) variant details
- p.Asp114Gly
- cosmic curated COSV63703
- ESP rs368618869
- ExAC rs368618869
- TOPMed rs368618869
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.46
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available