T26N (p.Thr26Asn) variant of PTEN (P60484)
T26N (p.Thr26Asn) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs786204853
- ClinGen CA377782052
- ClinVar RCV001220448
- ClinVar RCV005262294
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)