R366C (p.Arg366Cys) variant of F10 (Coagulation factor X)
R366C (p.Arg366Cys) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R366C (p.Arg366Cys) variant details
- p.Arg366Cys
- rs104894392
- ClinGen CA121837
- ClinVar RCV000012833
- UniProt VAR 065445
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.72
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Factor X deficiency)
- 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 characterization of human factor XSan Antonio. (PMID 2790181)
- Cited in: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (PMID 10468877)