Q11H (p.Gln11His) variant of G6PD (P11413)
Q11H (p.Gln11His) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- Ensembl rs1050827
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.55
- CADD 22.90
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available