R11* (p.Arg11Ter) variant of PTEN (P60484)
R11* (p.Arg11Ter) in PTEN (P60484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
R11* (p.Arg11Ter) variant details
- p.Arg11Ter
- rs1858395868
- ClinGen CA377781878
- ClinVar RCV003452518
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.82
- MetaLR 0.54
- MetaSVM -0.16
- PolyPhen-2 0.07
- SIFT 0.00
- EVE 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- 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)