E18D (p.Glu18Asp) variant of PTEN (P60484)
E18D (p.Glu18Asp) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes experimental measurements, published literature, and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- rs1554890388
- ClinGen CA377781970
- ClinVar RCV001054357
- ClinVar RCV004671197
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- ESM-1b 0.63
- AlphaMissense 0.58
- MetaLR 0.69
- MetaSVM 0.26
- PolyPhen-2 0.32
- SIFT 0.13
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Benign
- UniProt: Benign
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48
- 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)