L32F (p.Leu32Phe) variant of HBD (Hemoglobin subunit delta)
L32F (p.Leu32Phe) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- gnomAD 11-5234210-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.54
- ESM-1b 0.34
- AlphaMissense 0.94
- MetaLR 0.81
- MetaSVM 0.38
- CADD 19.00
- Population evidence available
- Structural context available
- Literature evidence available