V99M (p.Val99Met) variant of HBB (Hemoglobin subunit beta)
V99M (p.Val99Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of Hemoglobinopathy; not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V99M (p.Val99Met) variant details
- p.Val99Met
- rs33933298
- ClinGen CA124987
- ClinVar RCV000016443
- ClinVar RCV000016446
- other
- Hemoglobinopathy; not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.30
- ClinVar: other (HEMOGLOBIN MEDICINE LAKE)
- EBI: Pathogenic (in Nottingham)
- UniProt: Pathogenic (in Nottingham)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. (PMID 14198723)
- Cited in: Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. (PMID 3768534)