S66A (p.Ser66Ala) variant of PPARGC1A (Q9UBK2)
S66A (p.Ser66Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S66A (p.Ser66Ala) variant details
- p.Ser66Ala
- TOPMed rs1017037521
- gnomAD rs1017037521
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available