D32H (p.Asp32His) variant of PPARGC1A (Q9UBK2)
D32H (p.Asp32His) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- ExAC rs757290172
- TOPMed rs757290172
- gnomAD rs757290172
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.42
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available