L4Q (p.Leu4Gln) variant of HBB (Hemoglobin subunit beta)
L4Q (p.Leu4Gln) 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 0.96 / 1. The record also includes structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- rs63750720
- ClinGen CA217115574
- ClinVar RCV000508469
- Ensembl rs63750720
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available