P134L (p.Pro134Leu) variant of PPARGC1A (Q9UBK2)
P134L (p.Pro134Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P134L (p.Pro134Leu) variant details
- p.Pro134Leu
- TOPMed rs1288109429
- gnomAD rs1288109429
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.23
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.13
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available