G420C (p.Gly420Cys) variant of F5 (Coagulation factor V)
G420C (p.Gly420Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G420C (p.Gly420Cys) variant details
- p.Gly420Cys
- rs1172481159
- ClinGen CA343127965
- ClinVar RCV003596845
- gnomAD rs1172481159
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital factor V deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available