P112T (p.Pro112Thr) variant of SERPINC1 (Antithrombin-III)
P112T (p.Pro112Thr) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P112T (p.Pro112Thr) variant details
- p.Pro112Thr
- UniProt VAR 007044
- Pathogenic
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.98
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PMID 7959685)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)