K196E (p.Lys196Glu) variant of PROS1 (Vitamin K-dependent protein S)
K196E (p.Lys196Glu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.44 / 1. The record also includes population frequency data and published literature.
K196E (p.Lys196Glu) variant details
- p.Lys196Glu
- rs121918474
- ClinGen CA123032
- ClinVar RCV000014246
- ClinVar RCV001055823
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.56
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Cited in: Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on… (PMID 11927129)
- Cited in: Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein… (PMID 15238143)