G115R (p.Gly115Arg) variant of PPARGC1A (Q9UBK2)
G115R (p.Gly115Arg) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G115R (p.Gly115Arg) variant details
- p.Gly115Arg
- rs769083394
- ClinGen CA2875553
- cosmic curated COSV10806
- ClinVar RCV004070980
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.35
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available