V2M (p.Val2Met) variant of HBB (Hemoglobin subunit beta)
V2M (p.Val2Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- rs33958358
- ClinGen CA125180
- ClinVar RCV000016609
- ClinVar RCV000508674
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.76
- MetaSVM 0.59
- CADD 24.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in Raleigh)
- UniProt: Pathogenic (in Raleigh)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Hemoglobin South Florida: a genetic variant with laboratory recognition of only 20% of its product. (PMID 3130858)
- Cited in: Hemoglobin South Florida. New variant with normal electrophoretic pattern mistaken for glycosylated hemoglobin. (PMID 3758492)