A152T (p.Ala152Thr) variant of PPARGC1A (Q9UBK2)
A152T (p.Ala152Thr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A152T (p.Ala152Thr) variant details
- p.Ala152Thr
- gnomAD rs867454398
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.24
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available