G40R (p.Gly40Arg) variant of POT1 (Q9NUX5)
G40R (p.Gly40Arg) in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- TOPMed rs1796390355
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available