I17M (p.Ile17Met) variant of PPARGC1A (Q9UBK2)
I17M (p.Ile17Met) in PPARGC1A (Q9UBK2) is a missense change. 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.
I17M (p.Ile17Met) variant details
- p.Ile17Met
- ExAC rs768910116
- TOPMed rs768910116
- gnomAD rs768910116
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.21
- CADD 25.00
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available