R425H (p.Arg425His) variant of SERPINC1 (Antithrombin-III)
R425H (p.Arg425His) 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 0.69 / 1. The record also includes published literature and structural context.
R425H (p.Arg425His) variant details
- p.Arg425His
- rs121909549
- ClinGen CA210766
- ClinVar RCV000019635
- ClinVar RCV005434608
- 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: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. (PMID 12894857)
- Cited in: Antithrombin Chicago, amino acid substitution of arginine 393 to histidine. (PMID 2781509)