D45N (p.Asp45Asn) variant of PPARGC1A (Q9UBK2)
D45N (p.Asp45Asn) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- ExAC rs752387695
- TOPMed rs752387695
- gnomAD rs752387695
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available