L79F (p.Leu79Phe) variant of POLG (DNA polymerase subunit gamma-1)
L79F (p.Leu79Phe) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- rs2509276366
- ClinGen CA393773371
- ClinVar RCV003317827
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available