A8S (p.Ala8Ser) variant of H6PD (O95479)
A8S (p.Ala8Ser) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 1-9240002-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 18.70
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available