I80T (p.Ile80Thr) variant of PPARGC1A (Q9UBK2)
I80T (p.Ile80Thr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- ExAC rs751972617
- gnomAD rs751972617
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.26
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available