E7D (p.Glu7Asp) variant of PTEN (P60484)
E7D (p.Glu7Asp) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs1554890337
- ClinGen CA377781840
- ClinVar RCV000645071
- ClinVar RCV004944045
- Uncertain significance
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.72
- MetaSVM 0.26
- CADD 22.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- 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)