T95K (p.Thr95Lys) variant of PPARGC1A (Q9UBK2)
T95K (p.Thr95Lys) 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.
T95K (p.Thr95Lys) variant details
- p.Thr95Lys
- ExAC rs759753596
- gnomAD rs759753596
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.42
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available