I5F (p.Ile5Phe) variant of PTEN (P60484)
I5F (p.Ile5Phe) 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 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
I5F (p.Ile5Phe) variant details
- p.Ile5Phe
- rs1060500109
- ClinGen CA377781801
- ClinVar RCV002021517
- Ensembl rs1060500109
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.72
- MetaSVM 0.30
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.198
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)