E11G (p.Glu11Gly) variant of PPARGC1A (Q9UBK2)
E11G (p.Glu11Gly) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- ESP rs372189559
- ExAC rs372189559
- TOPMed rs372189559
- gnomAD rs372189559
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available