E65K (p.Glu65Lys) variant of POLG (DNA polymerase subunit gamma-1)
E65K (p.Glu65Lys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy. The record also includes structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- TOPMed rs2055625060
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance
- Structural context available