R79H (p.Arg79His) variant of SERPINC1 (Antithrombin-III)
R79H (p.Arg79His) 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.
R79H (p.Arg79His) variant details
- p.Arg79His
- rs121909552
- ClinGen CA210758
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62930
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.70
- CADD 23.90
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Antithrombin Vicenza, Ala 384 to Pro (GCA to CCA) mutation, transforming the inhibitor into a substrate. (PMID 1998601)
- Cited in: CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the… (PMID 2615648)