P141L (p.Pro141Leu) variant of PPARGC1A (Q9UBK2)
P141L (p.Pro141Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P141L (p.Pro141Leu) variant details
- p.Pro141Leu
- ESP rs377698107
- ExAC rs377698107
- TOPMed rs377698107
- gnomAD rs377698107
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available