T113A (p.Thr113Ala) variant of PPARGC1A (Q9UBK2)
T113A (p.Thr113Ala) 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.
T113A (p.Thr113Ala) variant details
- p.Thr113Ala
- cosmic curated COSV99338
- Ensembl rs1725023508
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- CADD 22.70
- Population evidence available
- Structural context available