E11Q (p.Glu11Gln) variant of PPARGC1A (Q9UBK2)
E11Q (p.Glu11Gln) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- Ensembl rs1577672162
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available