Q17E (p.Gln17Glu) variant of PTEN (P60484)
Q17E (p.Gln17Glu) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
Q17E (p.Gln17Glu) variant details
- p.Gln17Glu
- rs786204910
- ClinGen CA377781947
- ClinVar RCV000563631
- ClinVar RCV001556501
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.75
- MetaSVM 0.33
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.968
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)