N61K (p.Asn61Lys) variant of F13A1 (Coagulation factor XIII A chain)
N61K (p.Asn61Lys) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- rs121913067
- TOPMed rs121913067
- gnomAD rs121913067
- ClinGen CA126621
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.82
- MetaLR 0.27
- MetaSVM -0.56
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after… (PMID 7727776)