P73T (p.Pro73Thr) variant of PPARGC1A (Q9UBK2)
P73T (p.Pro73Thr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- TOPMed rs1194231522
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.11
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available