R355C (p.Arg355Cys) variant of PROS1 (Vitamin K-dependent protein S)
R355C (p.Arg355Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.81 / 1. The record also includes population frequency data and published literature.
R355C (p.Arg355Cys) variant details
- p.Arg355Cys
- rs387906674
- ClinGen CA128688
- NCI-TCGA Cosmic COSV6777
- cosmic curated COSV67774
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.83
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Cited in: Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation. (PMID 21172841)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)