A33V (p.Ala33Val) variant of H6PD (O95479)
A33V (p.Ala33Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD 1-9245032-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.66
- MetaLR 0.58
- MetaSVM 0.26
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available