Y558C (p.Tyr558Cys) variant of F5 (Coagulation factor V)
Y558C (p.Tyr558Cys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y558C (p.Tyr558Cys) variant details
- p.Tyr558Cys
- rs780922091
- ClinGen CA343123938
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63123
- Likely pathogenic
- Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor V deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)