I101T (p.Ile101Thr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I101T (p.Ile101Thr) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Macrocephaly-autism syndrome; Glioma susceptibility 2; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- rs1339631701
- ClinGen CA377482139
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Macrocephaly-autism syndrome; Glioma susceptibility 2; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Macrocephaly-autism syndrome; Glioma susceptibility 2; Familial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.26
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)