P133L (p.Pro133Leu) variant of PPARGC1A (Q9UBK2)
P133L (p.Pro133Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P133L (p.Pro133Leu) variant details
- p.Pro133Leu
- gnomAD rs1351048482
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available