M134T (p.Met134Thr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M134T (p.Met134Thr) 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/likely pathogenic 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 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M134T (p.Met134Thr) variant details
- p.Met134Thr
- rs1085308046
- ClinGen CA377482338
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Cowden syndrome 1; PTEN hamartoma tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Cowden syndrome 1; PTEN)
- EBI: Pathogenic (in prostate cancer)
- UniProt: Pathogenic (in prostate cancer)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.854
- 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)