L4P (p.Leu4Pro) variant of HBB (Hemoglobin subunit beta)
L4P (p.Leu4Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- Ensembl rs63750720
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.70
- MetaSVM 0.54
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available