R2202C (p.Arg2202Cys) variant of F5 (Coagulation factor V)
R2202C (p.Arg2202Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R2202C (p.Arg2202Cys) variant details
- p.Arg2202Cys
- rs754980174
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10745
- ExAC rs754980174
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- MetaLR 0.88
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital factor V deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available