L22P (p.Leu22Pro) variant of PPARGC1A (Q9UBK2)
L22P (p.Leu22Pro) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- TOPMed rs1716602667
- gnomAD rs1716602667
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available