S74L (p.Ser74Leu) variant of PPARGC1A (Q9UBK2)
S74L (p.Ser74Leu) 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.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- cosmic curated COSV53529
- 1000Genomes rs142669571
- ESP rs142669571
- ExAC rs142669571
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available