I65T (p.Ile65Thr) variant of PPARGC1A (Q9UBK2)
I65T (p.Ile65Thr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- ExAC rs767975424
- gnomAD rs767975424
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available