R101C (p.Arg101Cys) variant of PROS1 (Vitamin K-dependent protein S)
R101C (p.Arg101Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.53 / 1. The record also includes population frequency data and published literature.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs778731080
- ClinGen CA78494166
- ClinVar RCV003110564
- ClinVar RCV003994523
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.63
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (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 8.9e-05)
- Cited in: Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. (PMID 12632031)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)