M1? variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)

Name: PTEN M1? variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

M1? in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.

M1? variant details

rs1858394001
NCI-TCGA Cosmic COSV6429
TOPMed rs1858394001
Pathogenic
Missense
Variant Prioritization Score for Impact Estimate 0.933
MutPred 0.93
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)