P73L (p.Pro73Leu) variant of SERPINC1 (Antithrombin-III)
P73L (p.Pro73Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs121909551
- ClinGen CA210756
- cosmic curated COSV10467
- ClinVar RCV000019627
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.66
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin… (PMID 1536946)
- Cited in: Clinical and biochemical characterization of antithrombin III Franconville, a variant with Pro 41 Leu mutation. (PMID 2372510)