V21M (p.Val21Met) variant of HBB (Hemoglobin subunit beta)
V21M (p.Val21Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- rs35890959
- ClinGen CA125086
- cosmic curated COSV58942
- ClinVar RCV000016533
- Pathogenic/Likely pathogenic
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.62
- MetaSVM -0.15
- CADD 17.40
- ClinVar: Pathogenic/Likely pathogenic (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Pathogenic (in Olympia)
- UniProt: Pathogenic (in Olympia)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Hb Linköping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish… (PMID 3691763)
- Cited in: Hemoglobin olympia ( 20 valine leads to methionine): an electrophoretically silent variant associated with high oxygen… (PMID 4683875)