C71F (p.Cys71Phe) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
C71F (p.Cys71Phe) 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 PTEN-related disorder; Hereditary cancer-predisposing syndrome; not provided. 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.
C71F (p.Cys71Phe) variant details
- p.Cys71Phe
- rs1554897856
- ClinGen CA377481241
- ClinVar RCV000551939
- ClinVar RCV001014557
- Conflicting interpretations
- PTEN-related disorder; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (PTEN-related disorder; Hereditary cancer-predisposing syndrome;)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.849
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)