A414T (p.Ala414Thr) variant of SERPINC1 (Antithrombin-III)
A414T (p.Ala414Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A414T (p.Ala414Thr) variant details
- p.Ala414Thr
- rs121909557
- ClinGen CA210768
- ClinVar RCV000019636
- ClinVar RCV004791231
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- MetaLR 0.85
- MetaSVM 0.85
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Site-directed mutagenesis of alanine-382 of human antithrombin III. (PMID 2013320)
- Cited in: CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the… (PMID 2615648)