G73R (p.Gly73Arg) variant of H6PD (O95479)
G73R (p.Gly73Arg) in H6PD (O95479) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- rs906651065
- ClinGen CA338187412
- ClinVar RCV002857085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.15
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available