E27V (p.Glu27Val) variant of HBB (Hemoglobin subunit beta)
E27V (p.Glu27Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN HENRI MONDOR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- rs33915112
- ClinGen CA124898
- ClinVar RCV000016377
- UniProt VAR 002908
- other
- HEMOGLOBIN HENRI MONDOR
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- ESM-1b 1.00
- AlphaMissense 0.67
- ClinVar: other (HEMOGLOBIN HENRI MONDOR)
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Structural context available
- Cited in: Hb Henri Mondor: beta26 (B8) Glu leads to Val: a variant with a substitution localized at the same position as that of… (PMID 1001469)
- Cited in: Further characterization of Hb Henri Mondor or alpha 2 beta 2(26)(B8)Glu----Val. (PMID 3583762)