G73D (p.Gly73Asp) variant of H6PD (O95479)
G73D (p.Gly73Asp) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- gnomAD 1-9245152-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.90
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available