D51E (p.Asp51Glu) variant of POT1 (Q9NUX5)
D51E (p.Asp51Glu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- Ensembl rs1795855015
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available