R173S (p.Arg173Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R173S (p.Arg173Ser) 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 conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Cowden syndrome 1; PTEN hamartoma tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R173S (p.Arg173Ser) variant details
- p.Arg173Ser
- rs121913293
- ClinGen CA16613248
- ClinVar RCV000460834
- ClinVar RCV005252897
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Cowden syndrome 1; PTEN hamartoma tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Cowden syndrome 1; PTEN)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.226
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)