D120E (p.Asp120Glu) variant of PPARGC1A (Q9UBK2)
D120E (p.Asp120Glu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D120E (p.Asp120Glu) variant details
- p.Asp120Glu
- ExAC rs766670450
- TOPMed rs766670450
- gnomAD rs766670450
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available