V110M (p.Val110Met) variant of HBB (Hemoglobin subunit beta)
V110M (p.Val110Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V110M (p.Val110Met) variant details
- p.Val110Met
- rs33969677
- ClinGen CA125147
- ClinVar RCV000016585
- ClinVar RCV000169614
- Pathogenic
- Hemoglobinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.56
- MetaSVM -0.37
- CADD 11.80
- ClinVar: Pathogenic (Hemoglobinopathy; not provided)
- EBI: Pathogenic (in San Diego)
- UniProt: Pathogenic (in San Diego)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Hb N-Baltimore or beta 95(Fg2)Lys----Glu in Portugal. (PMID 2703368)
- Cited in: Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109… (PMID 4808644)