A141V (p.Ala141Val) variant of HBB (Hemoglobin subunit beta)
A141V (p.Ala141Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
A141V (p.Ala141Val) variant details
- p.Ala141Val
- rs33927093
- ClinGen CA125422
- ClinVar RCV000016811
- ClinVar RCV003234910
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in Puttelange)
- UniProt: Pathogenic (in Puttelange)
- Structural context available
- Cited in: Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant… (PMID 8522332)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)