I5T (p.Ile5Thr) variant of PTEN (P60484)
I5T (p.Ile5Thr) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrocephaly-autism syndrome; PTEN hamartoma tumor 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.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs2132145451
- ClinVar RCV004595062
- ClinVar RCV006489036
- Ensembl rs2132145451
- Likely pathogenic
- Macrocephaly-autism syndrome; PTEN hamartoma tumor 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: Likely pathogenic (Macrocephaly-autism syndrome; PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)