P246L (p.Pro246Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
P246L (p.Pro246Leu) 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 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P246L (p.Pro246Leu) variant details
- p.Pro246Leu
- rs587782350
- ClinGen CA000559
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6430
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.82
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.83
- Cited in: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity… (PMID 10400993)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)