S11T (p.Ser11Thr) variant of SERPINC1 (Antithrombin-III)
S11T (p.Ser11Thr) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- rs1445653081
- ClinGen CA343779044
- ClinVar RCV001210419
- TOPMed rs1445653081
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0889
- REVEL 0.11
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)