V21A (p.Val21Ala) variant of HBD (Hemoglobin subunit delta)
V21A (p.Val21Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- ExAC rs34093840
- gnomAD rs34093840
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.53
- ESM-1b 0.54
- AlphaMissense 0.60
- MetaLR 0.52
- MetaSVM -0.41
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available