K273N (p.Lys273Asn) variant of SERPINC1 (Antithrombin-III)
K273N (p.Lys273Asn) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
K273N (p.Lys273Asn) variant details
- p.Lys273Asn
- rs2102783199
- ClinGen CA343774672
- ClinVar RCV001801312
- Ensembl rs2102783199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.32
- MetaLR 0.26
- MetaSVM -0.77
- PolyPhen-2 0.89
- SIFT 0.08
- EVE 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)