T10N (p.Thr10Asn) variant of SERPINC1 (Antithrombin-III)
T10N (p.Thr10Asn) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T10N (p.Thr10Asn) variant details
- p.Thr10Asn
- rs2526612854
- ClinGen CA2580061386
- ClinVar RCV002648224
- Likely benign
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely benign (Hereditary antithrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)