S50C (p.Ser50Cys) variant of PPARGC1A (Q9UBK2)
S50C (p.Ser50Cys) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- gnomAD rs1338326192
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available