N48S (p.Asn48Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
N48S (p.Asn48Ser) 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 Cowden syndrome 1; not provided; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- rs1859098783
- ClinGen CA377784563
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6430
- Pathogenic
- Cowden syndrome 1; not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Cowden syndrome 1; not provided; PTEN hamartoma tumor 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)