A116P (p.Ala116Pro) variant of HBB (Hemoglobin subunit beta)
A116P (p.Ala116Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dominant beta-thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
A116P (p.Ala116Pro) variant details
- p.Ala116Pro
- rs34945623
- ClinGen CA125013
- ClinVar RCV000016478
- ClinVar RCV005417431
- Pathogenic
- Dominant beta-thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic (Dominant beta-thalassemia)
- EBI: Pathogenic (in Madrid)
- UniProt: Pathogenic (in Madrid)
- Structural context available
- Cited in: Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia. (PMID 10870884)
- Cited in: Haemoglobin Madrid beta 115 (G17) alanine--proline: an unstable variant associated with haemolytic anaemia. (PMID 4212046)