T132I (p.Thr132Ile) variant of PPARGC1A (Q9UBK2)
T132I (p.Thr132Ile) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T132I (p.Thr132Ile) variant details
- p.Thr132Ile
- ExAC rs775001167
- gnomAD rs775001167
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available