D32E (p.Asp32Glu) variant of PPARGC1A (Q9UBK2)
D32E (p.Asp32Glu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- TOPMed rs1264002788
- gnomAD rs1264002788
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available