C19Y (p.Cys19Tyr) variant of PPARGC1A (Q9UBK2)
C19Y (p.Cys19Tyr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- TOPMed rs1406929929
- gnomAD rs1406929929
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.38
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available