C127R (p.Cys127Arg) variant of SERPINC1 (Antithrombin-III)
C127R (p.Cys127Arg) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
C127R (p.Cys127Arg) variant details
- p.Cys127Arg
- rs121909573
- ClinGen CA210802
- ClinVar RCV000019660
- UniProt VAR 027455
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.91
- MetaLR 0.28
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.85
- EVE 0.24
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Intracellular accumulation of antithrombin Morioka (C95R), a novel mutation causing type I antithrombin deficiency. (PMID 12399451)
- Cited in: Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. (PMID 9157604)