R136H (p.Arg136His) variant of G6PD (P11413)
R136H (p.Arg136His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs782205676
- ClinGen CA10566249
- ClinVar RCV003868842
- ClinVar RCV005040586
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.84
- CADD 23.00
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malari)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)