N87S (p.Asn87Ser) variant of SERPINC1 (Antithrombin-III)
N87S (p.Asn87Ser) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N87S (p.Asn87Ser) variant details
- p.Asn87Ser
- rs2102789848
- ClinGen CA343777746
- cosmic curated COSV62930
- ClinVar RCV001984875
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)