D116N (p.Asp116Asn) variant of PPARGC1A (Q9UBK2)
D116N (p.Asp116Asn) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D116N (p.Asp116Asn) variant details
- p.Asp116Asn
- TOPMed rs1449112921
- gnomAD rs1449112921
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 0.80
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available