C25R (p.Cys25Arg) variant of F13B (Coagulation factor XIII B chain)
C25R (p.Cys25Arg) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA13BD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C25R (p.Cys25Arg) variant details
- p.Cys25Arg
- rs1232302447
- UniProt VAR 074563
- TOPMed rs1232302447
- gnomAD rs1232302447
- Pathogenic
- in FA13BD
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.92
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in FA13BD)
- UniProt: Pathogenic (in FA13BD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a… (PMID 20331752)
- Cited in: Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants. (PMID 26247044)