L32L (p.Leu32Leu) variant of HBD (Hemoglobin subunit delta)
L32L (p.Leu32Leu) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L32L (p.Leu32Leu) variant details
- p.Leu32Leu
- gnomAD 11-5234212-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 7.39
- Population evidence available
- Structural context available
- Literature evidence available