Q52R (p.Gln52Arg) variant of POT1 (Q9NUX5)
Q52R (p.Gln52Arg) 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.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- rs1795854850
- ClinGen CA369061636
- ClinVar RCV001345029
- Ensembl rs1795854850
- 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)