A90V (p.Ala90Val) variant of PPARGC1A (Q9UBK2)
A90V (p.Ala90Val) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- gnomAD rs1304824586
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available