Q17* (p.Gln17Ter) variant of PTEN (P60484)
Q17* (p.Gln17Ter) 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 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- rs786204910
- ClinGen CA000485
- NCI-TCGA Cosmic COSV6428
- ClinVar RCV000169851
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.43
- MetaLR 0.75
- MetaSVM 0.33
- CADD 38.00
- PolyPhen-2 0.02
- SIFT 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.968
- 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)