C6Y (p.Cys6Tyr) variant of PPARGC1A (Q9UBK2)
C6Y (p.Cys6Tyr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- TOPMed rs1717575448
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.42
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available