V2L (p.Val2Leu) variant of HBB (Hemoglobin subunit beta)
V2L (p.Val2Leu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- rs33958358
- ClinGen CA125444
- ClinVar RCV000016824
- ClinVar RCV005049378
- Uncertain significance
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.62
- MetaSVM 0.19
- CADD 22.40
- ClinVar: Uncertain significance (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Pathogenic (in Raleigh)
- UniProt: Pathogenic (in Raleigh)
- Population evidence available
- Structural context available
- Cited in: Hb Niigata [beta 1 (NA1) Val-->Leu]: the fifth variant with retention of the initiator methionine and partial… (PMID 9101286)
- Cited in: Beta-Thalassemia. (PMID 20301599)