R74G (p.Arg74Gly) variant of G6PD (P11413)
R74G (p.Arg74Gly) in G6PD (P11413) 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 0.56 / 1. The record also includes structural context.
R74G (p.Arg74Gly) variant details
- p.Arg74Gly
- rs781848254
- ClinGen CA10605722
- ClinVar RCV000298862
- ExAC rs781848254
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.46
- PolyPhen-2 0.34
- SIFT 0.00
- EVE 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available