I39N (p.Ile39Asn) variant of SERPINC1 (Antithrombin-III)
I39N (p.Ile39Asn) 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 0.65 / 1. The record also includes published literature and structural context.
I39N (p.Ile39Asn) variant details
- p.Ile39Asn
- rs121909558
- ClinGen CA210770
- ClinVar RCV000019637
- UniProt VAR 007033
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.33
- MetaLR 0.67
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.45
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the… (PMID 2615648)
- Cited in: New carbohydrate site in mutant antithrombin (7 Ile----Asn) with decreased heparin affinity. (PMID 3169232)