R425P (p.Arg425Pro) variant of SERPINC1 (Antithrombin-III)
R425P (p.Arg425Pro) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R425P (p.Arg425Pro) variant details
- p.Arg425Pro
- rs121909549
- ClinGen CA210752
- ClinVar RCV000019625
- UniProt VAR 007076
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.83
- MetaLR 0.67
- MetaSVM 0.34
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.65
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Antithrombin Sheffield: amino acid substitution at the reactive site (Arg393 to His) causing thrombosis. (PMID 2917133)
- Cited in: Antithrombin III Pescara: a defective AT III variant with no alterations of plasma crossed immunoelectrophoresis, but… (PMID 3828226)