I135K (p.Ile135Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I135K (p.Ile135Lys) 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/likely pathogenic in the context of Familial meningioma; Cowden syndrome 1; Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
I135K (p.Ile135Lys) variant details
- p.Ile135Lys
- rs370795352
- ClinGen CA377482344
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6428
- Pathogenic/Likely pathogenic
- Familial meningioma; Cowden syndrome 1; Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Familial meningioma; Cowden syndrome 1; Prostate cancer)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.127
- 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)