C450F (p.Cys450Phe) variant of F13B (Coagulation factor XIII B chain)
C450F (p.Cys450Phe) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, b subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C450F (p.Cys450Phe) variant details
- p.Cys450Phe
- rs121913075
- ClinGen CA126610
- ClinVar RCV000017983
- UniProt VAR 007475
- Pathogenic
- Factor XIII, b subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Factor XIII, b subunit, deficiency of)
- EBI: Pathogenic (in FA13BD)
- UniProt: Pathogenic (in FA13BD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. (PMID 8324218)
- Cited in: Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. (PMID 11313256)