E7* (p.Glu7Ter) variant of PTEN (P60484)
E7* (p.Glu7Ter) 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 0.43 / 1. The record also includes experimental measurements, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs1554890335
- ClinGen CA377781832
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.31
- MetaLR 0.51
- MetaSVM -0.21
- PolyPhen-2 0.04
- SIFT 0.54
- EVE 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- 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)