I101N (p.Ile101Asn) variant of F13B (Coagulation factor XIII B chain)
I101N (p.Ile101Asn) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I101N (p.Ile101Asn) variant details
- p.Ile101Asn
- rs753009140
- UniProt VAR 074564
- ExAC rs753009140
- TOPMed rs753009140
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in FA13BD)
- UniProt: Pathogenic (in FA13BD)
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)