A86T (p.Ala86Thr) variant of PPARGC1A (Q9UBK2)
A86T (p.Ala86Thr) 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.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- ESP rs370930722
- ExAC rs370930722
- TOPMed rs370930722
- gnomAD rs370930722
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.25
- CADD 25.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available