V21E (p.Val21Glu) variant of HBB (Hemoglobin subunit beta)
V21E (p.Val21Glu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- rs33918474
- ClinGen CA125418
- ClinVar RCV000016805
- Ensembl rs33918474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- ESM-1b 1.00
- AlphaMissense 0.45
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance (in Olympia)
- Structural context available
- Cited in: Two different mutations in codon 97 of the beta-globin gene cause Hb Malmö in Sweden. (PMID 8571935)