M1V (p.Met1Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
M1V (p.Met1Val) 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 PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1554890324
- ClinGen CA377781751
- ClinVar RCV000572416
- ClinVar RCV000706088
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 0.71
- SIFT 0.00
- EVE 0.65
- MutPred 0.94
- ClinVar: Pathogenic (PTEN hamartoma tumor 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)