G17D (p.Gly17Asp) variant of HBD (Hemoglobin subunit delta)
G17D (p.Gly17Asp) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD rs1172700897
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.57
- ESM-1b 0.33
- AlphaMissense 0.25
- MetaLR 0.53
- MetaSVM -0.47
- CADD 2.62
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available