C113R (p.Cys113Arg) variant of HBB (Hemoglobin subunit beta)
C113R (p.Cys113Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN INDIANAPOLIS; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes published literature and structural context.
C113R (p.Cys113Arg) variant details
- p.Cys113Arg
- rs35849199
- ClinGen CA124924
- ClinVar RCV000016392
- ClinVar RCV000016393
- Pathogenic; other
- HEMOGLOBIN INDIANAPOLIS; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- ESM-1b 0.00
- AlphaMissense 0.93
- ClinVar: Pathogenic; other (HEMOGLOBIN INDIANAPOLIS; Heinz body anemia)
- EBI: Pathogenic (in Indianapolis)
- UniProt: Pathogenic (in Indianapolis)
- Structural context available
- Cited in: Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. (PMID 2005117)
- Cited in: A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain. (PMID 3781865)