V34M (p.Val34Met) variant of HBD (Hemoglobin subunit delta)
V34M (p.Val34Met) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- gnomAD 11-5234206-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.70
- MetaSVM 0.04
- CADD 16.90
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available