A8T (p.Ala8Thr) variant of H6PD (O95479)
A8T (p.Ala8Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 1-9240002-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 20.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available