R79C (p.Arg79Cys) variant of SERPINC1 (Antithrombin-III)
R79C (p.Arg79Cys) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- rs121909547
- ClinGen CA210748
- cosmic curated COSV62930
- ClinVar RCV000019620
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.74
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.29
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Cited in: CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the… (PMID 2615648)
- Cited in: Quantitative and qualitative congenital deficiency of antithrombin III: a new molecular variant called ATIII-Barcelona… (PMID 3413737)