T104N (p.Thr104Asn) variant of PROS1 (Vitamin K-dependent protein S)
T104N (p.Thr104Asn) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein S deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
T104N (p.Thr104Asn) variant details
- p.Thr104Asn
- rs753950548
- ClinGen CA78494154
- ClinVar RCV001144368
- TOPMed rs753950548
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.30
- CADD 15.10
- PolyPhen-2 0.41
- SIFT 0.50
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)