R173C (p.Arg173Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R173C (p.Arg173Cys) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R173C (p.Arg173Cys) variant details
- p.Arg173Cys
- rs2493753433
- ClinGen CA2695200923
- ClinVar RCV003452606
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.226
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. (PMID 24778394)