D22E (p.Asp22Glu) variant of HBB (Hemoglobin subunit beta)
D22E (p.Asp22Glu) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- gnomAD rs373362317
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.83
- CADD 0.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available