G125D (p.Gly125Asp) variant of SERPINC1 (Antithrombin-III)
G125D (p.Gly125Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G125D (p.Gly125Asp) variant details
- p.Gly125Asp
- rs2526594003
- ClinGen CA343777309
- ClinVar RCV003639154
- UniProt VAR 071200
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.93
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. (PMID 23910795)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)