A8A (p.Ala8Ala) variant of H6PD (O95479)
A8A (p.Ala8Ala) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 1-9240004-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.04
- Population evidence available
- Structural context available
- Literature evidence available