V19L (p.Val19Leu) variant of HBD (Hemoglobin subunit delta)
V19L (p.Val19Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- gnomAD 11-5234379-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.71
- MetaSVM 0.01
- CADD 7.16
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available