A436T (p.Ala436Thr) variant of SERPINC1 (Antithrombin-III)
A436T (p.Ala436Thr) 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 0.76 / 1. The record also includes published literature and structural context.
A436T (p.Ala436Thr) variant details
- p.Ala436Thr
- rs121909546
- ClinGen CA210746
- ClinVar RCV000019619
- UniProt VAR 007081
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.64
- MetaLR 0.79
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA. (PMID 14347873)
- Cited in: Antithrombin Oslo: type Ib classification of the first reported antithrombin-deficient family, with a review of… (PMID 3055413)