I49T (p.Ile49Thr) variant of POT1 (Q9NUX5)
I49T (p.Ile49Thr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Tumor predisposition synd. The record also includes published literature and structural context.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- rs2485505269
- ClinGen CA369061671
- ClinVar RCV003037676
- ClinVar RCV005098735
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Tumor predisposition synd
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Tumor pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)