R2102C (p.Arg2102Cys) variant of F5 (Coagulation factor V)
R2102C (p.Arg2102Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R2102C (p.Arg2102Cys) variant details
- p.Arg2102Cys
- rs118203910
- ClinGen CA251559
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63121
- Likely pathogenic
- Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.07
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor V deficiency)
- EBI: Pathogenic (in FA5D)
- UniProt: Pathogenic (in FA5D)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular… (PMID 12393490)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)