P134S (p.Pro134Ser) variant of PPARGC1A (Q9UBK2)
P134S (p.Pro134Ser) 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.
P134S (p.Pro134Ser) variant details
- p.Pro134Ser
- TOPMed rs1176393141
- gnomAD rs1176393141
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.23
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available