P135L (p.Pro135Leu) variant of PPARGC1A (Q9UBK2)
P135L (p.Pro135Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P135L (p.Pro135Leu) variant details
- p.Pro135Leu
- TOPMed rs1243632497
- gnomAD rs1243632497
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available