W557C (p.Trp557Cys) variant of F5 (Coagulation factor V)
W557C (p.Trp557Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W557C (p.Trp557Cys) variant details
- p.Trp557Cys
- rs1571578995
- ClinGen CA343123943
- ClinVar RCV000851711
- Ensembl rs1571578995
- Likely pathogenic
- Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.85
- MetaLR 1.00
- MetaSVM 0.95
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor V deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)
- Cited in: Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A)… (PMID 21150787)