R355H (p.Arg355His) variant of PROS1 (Vitamin K-dependent protein S)
R355H (p.Arg355His) 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 Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
R355H (p.Arg355His) variant details
- p.Arg355His
- rs780863931
- ClinGen CA2503280
- NCI-TCGA Cosmic COSV6777
- cosmic curated COSV67775
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant; T)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Cited in: Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein… (PMID 15238143)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)