A90E (p.Ala90Glu) variant of PPARGC1A (Q9UBK2)
A90E (p.Ala90Glu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A90E (p.Ala90Glu) variant details
- p.Ala90Glu
- gnomAD rs1304824586
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.48
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available