A14V (p.Ala14Val) variant of HBD (Hemoglobin subunit delta)
A14V (p.Ala14Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- TOPMed rs35291639
- gnomAD rs35291639
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.59
- ESM-1b 0.26
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.17
- CADD 0.03
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available