V117L (p.Val117Leu) variant of PPARGC1A (Q9UBK2)
V117L (p.Val117Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V117L (p.Val117Leu) variant details
- p.Val117Leu
- ExAC rs754009449
- gnomAD rs754009449
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available