G47V (p.Gly47Val) variant of HBD (Hemoglobin subunit delta)
G47V (p.Gly47Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- Ensembl rs200264296
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- Structural context available