Q54A (p.Gln54Ala) variant of POLG (DNA polymerase subunit gamma-1)
Q54A (p.Gln54Ala) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
Q54A (p.Gln54Ala) variant details
- p.Gln54Ala
- rs2509276845
- ClinVar RCV003515812
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)