E160D (p.Glu160Asp) variant of PPARGC1A (Q9UBK2)
E160D (p.Glu160Asp) 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.
E160D (p.Glu160Asp) variant details
- p.Glu160Asp
- ExAC rs748420211
- gnomAD rs748420211
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available