D53N (p.Asp53Asn) variant of HBD (Hemoglobin subunit delta)
D53N (p.Asp53Asn) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- gnomAD rs281864511
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM -0.17
- CADD 11.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available