L164F (p.Leu164Phe) variant of PPARGC1A (Q9UBK2)
L164F (p.Leu164Phe) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L164F (p.Leu164Phe) variant details
- p.Leu164Phe
- gnomAD rs1475567101
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.71
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available