D48E (p.Asp48Glu) variant of HBD (Hemoglobin subunit delta)
D48E (p.Asp48Glu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- ExAC rs758478152
- gnomAD rs758478152
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.61
- ESM-1b 0.21
- AlphaMissense 0.61
- MetaLR 0.80
- MetaSVM 0.40
- CADD 20.90
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available