R42L (p.Arg42Leu) variant of POLG (DNA polymerase subunit gamma-1)
R42L (p.Arg42Leu) 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 structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- ExAC rs74382477
- gnomAD rs74382477
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available