R31T (p.Arg31Thr) variant of HBB (Hemoglobin subunit beta)
R31T (p.Arg31Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Beta-thalassemia HBB/LCRB; Erythrocytosis, familial, 6; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R31T (p.Arg31Thr) variant details
- p.Arg31Thr
- rs33960103
- ClinGen CA213890
- cosmic curated COSV58942
- ClinVar RCV000016432
- Pathogenic
- Beta-thalassemia HBB/LCRB; Erythrocytosis, familial, 6; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.05
- CADD 36.00
- ClinVar: Pathogenic (Beta-thalassemia HBB/LCRB; Erythrocytosis, familial, 6; Heinz bo)
- EBI: Pathogenic (in Tacoma)
- UniProt: Pathogenic (in Tacoma)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene. (PMID 2753736)
- Cited in: A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for… (PMID 2915972)