N48K (p.Asn48Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
N48K (p.Asn48Lys) 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 Glioma susceptibility 2; Hereditary cancer-predisposing syndrome; PTEN hamartoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- rs762518389
- ClinGen CA501151
- NCI-TCGA Cosmic COSV6430
- ClinVar RCV000704361
- Pathogenic/Likely pathogenic
- Glioma susceptibility 2; Hereditary cancer-predisposing syndrome; PTEN hamartoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Glioma susceptibility 2; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.506
- 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)