T131I (p.Thr131Ile) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
T131I (p.Thr131Ile) 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 in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
T131I (p.Thr131Ile) variant details
- p.Thr131Ile
- rs397514560
- ClinGen CA000442
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in MCEPHAS)
- UniProt: Pathogenic (in MCEPHAS)
- Structural context available
- PTEN VAMP-seq Combined: score 0.953
- Cited in: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (PMID 23160955)
- Cited in: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour… (PMID 15805158)