R15* (p.Arg15Ter) variant of PTEN (P60484)
R15* (p.Arg15Ter) in PTEN (P60484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CWS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- rs2132145750
- ClinGen CA377781929
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6430
- Pathogenic
- in CWS1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 0.25
- SIFT 0.00
- EVE 0.70
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- 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)