D116E (p.Asp116Glu) variant of PPARGC1A (Q9UBK2)
D116E (p.Asp116Glu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D116E (p.Asp116Glu) variant details
- p.Asp116Glu
- ExAC rs529427617
- TOPMed rs529427617
- gnomAD rs529427617
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available