G15S (p.Gly15Ser) variant of F5 (Coagulation factor V)
G15S (p.Gly15Ser) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs9332485
- ClinGen CA1234749
- ClinVar RCV000267052
- ClinVar RCV000361722
- Benign/Likely benign
- Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.50
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.09
- ClinVar: Benign/Likely benign (Thrombophilia due to thrombin defect; Congenital factor V defici)
- EBI: Benign (in dbSNP:rs9332485)
- UniProt: Benign (in dbSNP:rs9332485)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)