L15V (p.Leu15Val) variant of HBB (Hemoglobin subunit beta)
L15V (p.Leu15Val) 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 0.38 / 1. The record also includes structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- TOPMed rs1847585936
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- ESM-1b 0.22
- AlphaMissense 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in Soegn)
- UniProt: Uncertain significance (in Soegn)
- Structural context available