T98S (p.Thr98Ser) variant of PROS1 (Vitamin K-dependent protein S)
T98S (p.Thr98Ser) 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 recessive; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
T98S (p.Thr98Ser) variant details
- p.Thr98Ser
- rs142805170
- ClinGen CA2503523
- ClinVar RCV002245346
- ClinVar RCV002502056
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.0718
- REVEL 0.07
- CADD 0.46
- PolyPhen-2 0.01
- SIFT 0.83
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Variant of uncertain significance (in dbSNP:rs142805170)
- UniProt: Uncertain significance (in dbSNP:rs142805170)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Cited in: Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene… (PMID 10790208)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)