S59R (p.Ser59Arg) variant of PPARGC1A (Q9UBK2)
S59R (p.Ser59Arg) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S59R (p.Ser59Arg) variant details
- p.Ser59Arg
- ExAC rs750797347
- gnomAD rs750797347
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available