R31K (p.Arg31Lys) variant of HBB (Hemoglobin subunit beta)
R31K (p.Arg31Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of METHEMOGLOBINEMIA, BETA TYPE; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- rs33960103
- ClinGen CA342877
- cosmic curated COSV58942
- ClinVar RCV000030006
- Likely pathogenic
- METHEMOGLOBINEMIA, BETA TYPE; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.98
- MetaSVM 1.07
- CADD 35.00
- ClinVar: Likely pathogenic (METHEMOGLOBINEMIA, BETA TYPE; Heinz body anemia; Beta-thalassemi)
- EBI: Pathogenic (in Tacoma)
- UniProt: Pathogenic (in Tacoma)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Beta-Thalassemia. (PMID 20301599)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)