I5N (p.Ile5Asn) variant of PTEN (P60484)
I5N (p.Ile5Asn) 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 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- rs2132145451
- ClinGen CA377781803
- ClinVar RCV001979931
- ClinVar RCV003303484
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.198
- 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)