V24L (p.Val24Leu) variant of HBB (Hemoglobin subunit beta)
V24L (p.Val24Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- rs33929459
- ClinGen CA379274808
- ClinVar RCV000587770
- ExAC rs33929459
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- ESM-1b 1.00
- AlphaMissense 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in Freiburg)
- UniProt: Pathogenic (in Freiburg)
- Structural context available