M134I (p.Met134Ile) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M134I (p.Met134Ile) 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 uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
M134I (p.Met134Ile) variant details
- p.Met134Ile
- rs1114167676
- ClinGen CA377482340
- NCI-TCGA Cosmic COSV6429
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.31
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in prostate cancer)
- UniProt: Pathogenic (in prostate cancer)
- Structural context available
- PTEN VAMP-seq Combined: score 0.854
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)