S124G (p.Ser124Gly) variant of PPARGC1A (Q9UBK2)
S124G (p.Ser124Gly) 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.
S124G (p.Ser124Gly) variant details
- p.Ser124Gly
- ExAC rs767224331
- TOPMed rs767224331
- gnomAD rs767224331
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available