S148P (p.Ser148Pro) variant of SERPINC1 (Antithrombin-III)
S148P (p.Ser148Pro) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S148P (p.Ser148Pro) variant details
- p.Ser148Pro
- rs121909569
- ClinGen CA210791
- ClinVar RCV000019655
- UniProt VAR 007049
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.65
- CADD 26.60
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with… (PMID 8443391)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)