T53I (p.Thr53Ile) variant of POT1 (Q9NUX5)
T53I (p.Thr53Ile) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- rs2116567708
- ClinGen CA16616742
- ClinVar RCV002012454
- Ensembl rs2116567708
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)