L99I (p.Leu99Ile) variant of PPARGC1A (Q9UBK2)
L99I (p.Leu99Ile) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L99I (p.Leu99Ile) variant details
- p.Leu99Ile
- ExAC rs766754022
- gnomAD rs766754022
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.11
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available