W27R (p.Trp27Arg) variant of SERPINC1 (Antithrombin-III)
W27R (p.Trp27Arg) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
W27R (p.Trp27Arg) variant details
- p.Trp27Arg
- rs1165816584
- ClinGen CA343778485
- NCI-TCGA Cosmic COSV6292
- NCI-TCGA Cosmic COSV6293
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.69
- CADD 24.70
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)