E44Q (p.Glu44Gln) variant of HBD (Hemoglobin subunit delta)
E44Q (p.Glu44Gln) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- gnomAD 11-5234176-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.53
- ESM-1b 0.63
- AlphaMissense 0.17
- MetaLR 0.67
- MetaSVM -0.41
- CADD 12.60
- Most common in the 1KG:PJL population (allele frequency 0.026)
- Structural context available
- Literature evidence available