R439H (p.Arg439His) variant of G6PD (P11413)
R439H (p.Arg439His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R439H (p.Arg439His) variant details
- p.Arg439His
- rs137852337
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- ExAC rs137852337
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Variant of uncertain significance (in CNSHA1)
- UniProt: Uncertain significance (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available