G47E (p.Gly47Glu) variant of HBD (Hemoglobin subunit delta)
G47E (p.Gly47Glu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- gnomAD 11-5234166-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.02
- CADD 25.50
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available