R46G (p.Arg46Gly) variant of F5 (Coagulation factor V)
R46G (p.Arg46Gly) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- rs140598745
- ClinGen CA1234733
- ClinVar RCV002383666
- ClinVar RCV003597437
- Conflicting interpretations
- Congenital factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.49
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Congenital factor V deficiency; Pregnancy loss, recurrent, susce)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)