M1R (p.Met1Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M1R (p.Met1Arg) 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 Cowden syndrome 1; Hereditary cancer-predisposing syndrome; Syndromic microphtha. 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.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1858394001
- ClinGen CA377781760
- ClinVar RCV003452475
- ClinVar RCV006425066
- Uncertain significance
- Cowden syndrome 1; Hereditary cancer-predisposing syndrome; Syndromic microphtha
- 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: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)