M1I (p.Met1Ile) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M1I (p.Met1Ile) 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 conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2132145343
- ClinGen CA377781761
- ClinVar RCV001956128
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.85
- SIFT 0.04
- EVE 0.70
- MutPred 0.95
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 1.07
- 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)