E75Q (p.Glu75Gln) variant of H6PD (O95479)
E75Q (p.Glu75Gln) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E75Q (p.Glu75Gln) variant details
- p.Glu75Gln
- gnomAD 1-9245157-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.21
- MetaLR 0.84
- MetaSVM 0.38
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available