R31T (p.Arg31Thr) variant of HBD (Hemoglobin subunit delta)
R31T (p.Arg31Thr) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of delta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R31T (p.Arg31Thr) variant details
- p.Arg31Thr
- rs35654785
- ClinGen CA124684
- ClinVar RCV000016223
- Ensembl rs35654785
- Pathogenic
- delta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (delta Thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern… (PMID 1301204)