R31S (p.Arg31Ser) variant of HBB (Hemoglobin subunit beta)
R31S (p.Arg31Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- rs1135071
- ClinGen CA125196
- ClinVar RCV000016619
- ClinVar RCV000016620
- Pathogenic
- beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.60
- ClinVar: Pathogenic (beta Thalassemia)
- EBI: Pathogenic (in Tacoma)
- UniProt: Pathogenic (in Tacoma)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. (PMID 11939506)
- Cited in: Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan. (PMID 3937827)