E139K (p.Glu139Lys) variant of PPARGC1A (Q9UBK2)
E139K (p.Glu139Lys) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E139K (p.Glu139Lys) variant details
- p.Glu139Lys
- 1000Genomes rs545199285
- ExAC rs545199285
- TOPMed rs545199285
- gnomAD rs545199285
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.26
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available