D45H (p.Asp45His) variant of PPARGC1A (Q9UBK2)
D45H (p.Asp45His) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- ExAC rs752387695
- TOPMed rs752387695
- gnomAD rs752387695
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.42
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available