R136C (p.Arg136Cys) variant of G6PD (P11413)
R136C (p.Arg136Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R136C (p.Arg136Cys) variant details
- p.Arg136Cys
- rs979416826
- ClinGen CA337318060
- NCI-TCGA Cosmic COSV6370
- cosmic curated COSV63703
- Likely pathogenic
- not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.94
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)