K50E (p.Lys50Glu) variant of PROS1 (Vitamin K-dependent protein S)
K50E (p.Lys50Glu) 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 0.63 / 1. The record also includes population frequency data and published literature.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- rs748630360
- ClinGen CA2503583
- ClinVar RCV000851696
- ClinVar RCV001320343
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.83
- CADD 24.90
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein… (PMID 8943854)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)