H93N (p.His93Asn) variant of HBB (Hemoglobin subunit beta)
H93N (p.His93Asn) 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 1.00 / 1. The record also includes published literature and structural context.
H93N (p.His93Asn) variant details
- p.His93Asn
- rs33924775
- ClinGen CA125357
- ClinVar RCV000016756
- UniProt VAR 003002
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in Isehara)
- UniProt: Pathogenic (in Isehara)
- Structural context available
- Cited in: Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the… (PMID 1787097)
- Cited in: Hemoglobin Redondo [beta 92(F8) His----Asn]: an unstable hemoglobin variant associated with heme loss which occurs in… (PMID 1951318)