A8E (p.Ala8Glu) variant of H6PD (O95479)
A8E (p.Ala8Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 1-9240003-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 20.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available