T58I (p.Thr58Ile) variant of POT1 (Q9NUX5)
T58I (p.Thr58Ile) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Tumor predisposition syndrome 3; Hereditary cancer-predisposing s. The record also includes published literature and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs1795854315
- ClinGen CA369061568
- ClinVar RCV001338669
- Ensembl rs1795854315
- Uncertain significance
- not specified; Tumor predisposition syndrome 3; Hereditary cancer-predisposing s
- Missense
- ClinVar: Uncertain significance (not specified; Tumor predisposition syndrome 3; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)