Y27C (p.Tyr27Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y27C (p.Tyr27Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
Y27C (p.Tyr27Cys) variant details
- p.Tyr27Cys
- rs886041877
- ClinGen CA16613238
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6430
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.397
- 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)