D9E (p.Asp9Glu) variant of PPARGC1A (Q9UBK2)
D9E (p.Asp9Glu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- Ensembl rs970647152
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available