E7D (p.Glu7Asp) variant of HBD (Hemoglobin subunit delta)
E7D (p.Glu7Asp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs774077053
- ExAC rs774077053
- TOPMed rs774077053
- gnomAD rs774077053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.69
- CADD 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available