A168P (p.Ala168Pro) variant of POLG (DNA polymerase subunit gamma-1)
A168P (p.Ala168Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial neurogastrointestinal encephalomyopathy. The record also includes structural context.
A168P (p.Ala168Pro) variant details
- p.Ala168Pro
- rs2055619068
- ClinGen CA393771242
- ClinVar RCV001249204
- Ensembl rs2055619068
- Likely pathogenic
- Mitochondrial neurogastrointestinal encephalomyopathy
- Missense
- ClinVar: Likely pathogenic (Mitochondrial neurogastrointestinal encephalomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available