P353S (p.Pro353Ser) variant of SERPINC1 (Antithrombin-III)
P353S (p.Pro353Ser) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
P353S (p.Pro353Ser) variant details
- p.Pro353Ser
- rs2102782517
- ClinGen CA343773667
- ClinVar RCV001377779
- Ensembl rs2102782517
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.04
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)