T48R (p.Thr48Arg) variant of PPARGC1A (Q9UBK2)
T48R (p.Thr48Arg) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T48R (p.Thr48Arg) variant details
- p.Thr48Arg
- TOPMed rs1716590834
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- CADD 23.90
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available