M1T (p.Met1Thr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M1T (p.Met1Thr) 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 in the context of Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1858394001
- ClinGen CA377781758
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.65
- MutPred 0.93
- ClinVar: Pathogenic (Cowden syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 1.07
- 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)