V19A (p.Val19Ala) variant of HBD (Hemoglobin subunit delta)
V19A (p.Val19Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 11-5234378-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.66
- ESM-1b 0.40
- AlphaMissense 0.53
- MetaLR 0.86
- MetaSVM 0.44
- CADD 21.30
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available
- Literature evidence available