E137K (p.Glu137Lys) variant of PPARGC1A (Q9UBK2)
E137K (p.Glu137Lys) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- gnomAD rs1358609848
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.35
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available