A86P (p.Ala86Pro) variant of PPARGC1A (Q9UBK2)
A86P (p.Ala86Pro) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A86P (p.Ala86Pro) variant details
- p.Ala86Pro
- ESP rs370930722
- ExAC rs370930722
- TOPMed rs370930722
- gnomAD rs370930722
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.37
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available