A138T (p.Ala138Thr) variant of PPARGC1A (Q9UBK2)
A138T (p.Ala138Thr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- ExAC rs769377888
- TOPMed rs769377888
- gnomAD rs769377888
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available