V21L (p.Val21Leu) variant of HBB (Hemoglobin subunit beta)
V21L (p.Val21Leu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- TOPMed rs35890959
- gnomAD rs35890959
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.61
- MetaSVM -0.20
- CADD 10.30
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in Olympia)
- UniProt: Pathogenic (in Olympia)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available