A141T (p.Ala141Thr) variant of HBB (Hemoglobin subunit beta)
A141T (p.Ala141Thr) 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 SAINT JACQUES; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A141T (p.Ala141Thr) variant details
- p.Ala141Thr
- rs34980264
- ClinGen CA125141
- ClinVar RCV000016582
- ClinVar RCV000641604
- Pathogenic; other
- HEMOGLOBIN SAINT JACQUES; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic; other (HEMOGLOBIN SAINT JACQUES; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in St Jacques)
- UniProt: Pathogenic (in St Jacques)
- Structural context available
- Cited in: [Erythrocytosis due to a high-affinity hemoglobulin: mutant hemoglobin Saint-Jacques beta 140 (H18) Ala----Thr with a… (PMID 6546989)