S324P (p.Ser324Pro) variant of PROS1 (Vitamin K-dependent protein S)
S324P (p.Ser324Pro) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Protein S deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature.
S324P (p.Ser324Pro) variant details
- p.Ser324Pro
- rs1576180280
- ClinGen CA353672476
- cosmic curated COSV10470
- ClinVar RCV000851920
- Likely pathogenic
- Protein S deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.83
- MetaLR 0.48
- MetaSVM -0.22
- PolyPhen-2 0.90
- SIFT 0.16
- EVE 0.64
- ClinVar: Likely pathogenic (Protein S deficiency disease)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein… (PMID 8943854)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)