G2220C (p.Gly2220Cys) variant of F5 (Coagulation factor V)
G2220C (p.Gly2220Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G2220C (p.Gly2220Cys) variant details
- p.Gly2220Cys
- ExAC rs770569683
- TOPMed rs770569683
- gnomAD rs770569683
- Likely pathogenic
- Congenital factor V deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.10
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital factor V deficiency; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available