V24A (p.Val24Ala) variant of HBD (Hemoglobin subunit delta)
V24A (p.Val24Ala) 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.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- gnomAD 11-5234363-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.56
- ESM-1b 0.60
- AlphaMissense 0.14
- MetaLR 0.44
- MetaSVM -0.72
- CADD 11.90
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available