L49V (p.Leu49Val) variant of HBD (Hemoglobin subunit delta)
L49V (p.Leu49Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- ExAC rs750372909
- gnomAD rs750372909
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- ESM-1b 0.75
- AlphaMissense 0.21
- Structural context available