Y27N (p.Tyr27Asn) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y27N (p.Tyr27Asn) 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 likely pathogenic in the context of PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y27N (p.Tyr27Asn) variant details
- p.Tyr27Asn
- rs746128825
- ClinGen CA000582
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.397
- 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)