N79D (p.Asn79Asp) variant of F8 (Coagulation factor VIII)
N79D (p.Asn79Asp) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N79D (p.Asn79Asp) variant details
- p.Asn79Asp
- ExAC rs781898025
- TOPMed rs781898025
- gnomAD rs781898025
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- MetaLR 0.88
- MetaSVM 0.56
- CADD 22.60
- PolyPhen-2 0.63
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available