A65P (p.Ala65Pro) variant of H6PD (O95479)
A65P (p.Ala65Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- gnomAD 1-9245127-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.71
- MetaLR 0.94
- MetaSVM 0.98
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available