T26I (p.Thr26Ile) variant of PTEN (P60484)
T26I (p.Thr26Ile) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PTEN-related disorder; Hereditary cancer-predisposing syndrome; PTEN hamartoma t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- rs786204853
- ClinGen CA000574
- ClinVar RCV001065725
- ClinVar RCV001263192
- Pathogenic/Likely pathogenic
- PTEN-related disorder; Hereditary cancer-predisposing syndrome; PTEN hamartoma t
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.90
- ClinVar: Pathogenic/Likely pathogenic (PTEN-related disorder; Hereditary cancer-predisposing syndrome;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.471
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)