S194R (p.Ser194Arg) variant of SERPINC1 (Antithrombin-III)
S194R (p.Ser194Arg) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S194R (p.Ser194Arg) variant details
- p.Ser194Arg
- rs2526581512
- ClinGen CA343776281
- ClinVar RCV003527189
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)