L33M (p.Leu33Met) variant of HBD (Hemoglobin subunit delta)
L33M (p.Leu33Met) in HBD (Hemoglobin subunit delta) 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 0.76 / 1. The record also includes structural context.
L33M (p.Leu33Met) variant details
- p.Leu33Met
- gnomAD rs746437742
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- ESM-1b 1.00
- AlphaMissense 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available