G73A (p.Gly73Ala) variant of H6PD (O95479)
G73A (p.Gly73Ala) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G73A (p.Gly73Ala) variant details
- p.Gly73Ala
- gnomAD 1-9245152-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.94
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available