S59G (p.Ser59Gly) variant of PPARGC1A (Q9UBK2)
S59G (p.Ser59Gly) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S59G (p.Ser59Gly) variant details
- p.Ser59Gly
- cosmic curated COSV10636
- ExAC rs750797347
- gnomAD rs750797347
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.67
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available