F51L (p.Phe51Leu) variant of PPARGC1A (Q9UBK2)
F51L (p.Phe51Leu) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- gnomAD rs1422031469
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available