S98R (p.Ser98Arg) variant of PPARGC1A (Q9UBK2)
S98R (p.Ser98Arg) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S98R (p.Ser98Arg) variant details
- p.Ser98Arg
- ExAC rs754095698
- gnomAD rs754095698
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.33
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available