R42G (p.Arg42Gly) variant of POLG (DNA polymerase subunit gamma-1)
R42G (p.Arg42Gly) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- ExAC rs755553960
- TOPMed rs755553960
- gnomAD rs755553960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available