T358M (p.Thr358Met) variant of F10 (Coagulation factor X)
T358M (p.Thr358Met) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T358M (p.Thr358Met) variant details
- p.Thr358Met
- rs768222784
- ClinGen CA7060680
- NCI-TCGA Cosmic COSV6502
- ClinVar RCV002236395
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.45
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.14
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Molecular analysis of the genotype-phenotype relationship in factor X deficiency. (PMID 10746568)
- Cited in: Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity. (PMID 25313940)