Q27H (p.Gln27His) variant of PPARGC1A (Q9UBK2)
Q27H (p.Gln27His) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- TOPMed rs1716600627
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available