A416P (p.Ala416Pro) variant of SERPINC1 (Antithrombin-III)
A416P (p.Ala416Pro) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A416P (p.Ala416Pro) variant details
- p.Ala416Pro
- rs121909548
- ClinGen CA210750
- ClinVar RCV000019623
- ClinVar RCV003886364
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Population evidence available
- Structural context available
- Cited in: Antithrombin III Sudbury: an Ala384----Pro mutation with abnormal thrombin-binding activity and thrombotic diathesis. (PMID 2093312)
- Cited in: Antithrombin Padua. I: Impaired heparin binding caused by an Arg47 to his (CGT to CAT) substitution. (PMID 2349545)