H3N (p.His3Asn) variant of HBD (Hemoglobin subunit delta)
H3N (p.His3Asn) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H3N (p.His3Asn) variant details
- p.His3Asn
- ExAC rs281864510
- TOPMed rs281864510
- gnomAD rs281864510
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM -0.31
- CADD 11.40
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available