P125L (p.Pro125Leu) variant of PPARGC1A (Q9UBK2)
P125L (p.Pro125Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P125L (p.Pro125Leu) variant details
- p.Pro125Leu
- ExAC rs761735360
- gnomAD rs761735360
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.03
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available