E7K (p.Glu7Lys) variant of HBD (Hemoglobin subunit delta)
E7K (p.Glu7Lys) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD rs281864565
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.55
- MetaSVM -0.37
- CADD 14.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available