A54T (p.Ala54Thr) variant of H6PD (O95479)
A54T (p.Ala54Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- gnomAD 1-9245094-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.11
- MetaLR 0.19
- MetaSVM -0.76
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available