R90C (p.Arg90Cys) variant of PROS1 (Vitamin K-dependent protein S)
R90C (p.Arg90Cys) 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 dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
R90C (p.Arg90Cys) variant details
- p.Arg90Cys
- rs765935815
- ClinGen CA2503527
- NCI-TCGA Cosmic COSV6239
- ClinVar RCV003529474
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.68
- CADD 23.10
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (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 2.2e-05)
- Cited in: Genetic and phenotypic variability between families with hereditary protein S deficiency. (PMID 11858485)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)