G53C (p.Gly53Cys) variant of PPARGC1A (Q9UBK2)
G53C (p.Gly53Cys) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- TOPMed rs971433900
- gnomAD rs971433900
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.36
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available