P107L (p.Pro107Leu) variant of PPARGC1A (Q9UBK2)
P107L (p.Pro107Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- cosmic curated COSV53532
- ExAC rs773848879
- gnomAD rs773848879
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.46
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available