L15V (p.Leu15Val) variant of HBD (Hemoglobin subunit delta)
L15V (p.Leu15Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- gnomAD 11-5234391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.54
- CADD 0.86
- Population evidence available
- Structural context available
- Literature evidence available