N47H (p.Asn47His) variant of F13A1 (Coagulation factor XIII A chain)
N47H (p.Asn47His) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N47H (p.Asn47His) variant details
- p.Asn47His
- ExAC rs780962981
- TOPMed rs780962981
- gnomAD rs780962981
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.80
- CADD 9.42
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available