D24E (p.Asp24Glu) variant of PTEN (P60484)
D24E (p.Asp24Glu) 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 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
D24E (p.Asp24Glu) variant details
- p.Asp24Glu
- rs1320222638
- ClinGen CA377782035
- ClinVar RCV003619644
- ClinGen CA377782036
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- PTEN VAMP-seq Combined: score 0.848
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)