C2061Y (p.Cys2061Tyr) variant of F5 (Coagulation factor V)
C2061Y (p.Cys2061Tyr) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar 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 0.86 / 1. The record also includes population frequency data and structural context.
C2061Y (p.Cys2061Tyr) variant details
- p.Cys2061Tyr
- ExAC rs750944413
- TOPMed rs750944413
- gnomAD rs750944413
- Likely pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 1.05
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Congenital factor V deficiency)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available