E137D (p.Glu137Asp) variant of PPARGC1A (Q9UBK2)
E137D (p.Glu137Asp) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E137D (p.Glu137Asp) variant details
- p.Glu137Asp
- Ensembl rs2109698498
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.16
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available