R682H (p.Arg682His) variant of F13A1 (Coagulation factor XIII A chain)
R682H (p.Arg682His) 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 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R682H (p.Arg682His) variant details
- p.Arg682His
- rs121913064
- ClinGen CA126612
- ClinVar RCV000017988
- ClinVar RCV004791224
- Pathogenic
- Factor XIII deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.82
- CADD 31.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Pathogenic (Factor XIII deficiency; not provided)
- EBI: Pathogenic (in FA13AD)
- UniProt: Pathogenic (in FA13AD)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Identification of a point mutation in factor XIII A subunit deficiency. (PMID 1353995)
- Cited in: Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and… (PMID 20179087)