I6T (p.Ile6Thr) variant of SERPINC1 (Antithrombin-III)
I6T (p.Ile6Thr) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs753713846
- ClinGen CA1251495
- ClinVar RCV002868340
- ClinVar RCV004823125
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.25
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)