Y558S (p.Tyr558Ser) variant of F5 (Coagulation factor V)
Y558S (p.Tyr558Ser) 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 Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Y558S (p.Tyr558Ser) variant details
- p.Tyr558Ser
- ExAC rs780922091
- gnomAD rs780922091
- Likely pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital factor V deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available