R42A (p.Arg42Ala) variant of POLG (DNA polymerase subunit gamma-1)
R42A (p.Arg42Ala) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R42A (p.Arg42Ala) variant details
- p.Arg42Ala
- rs2509277695
- ClinGen CA2739269696
- ClinVar RCV003628130
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)