S165G (p.Ser165Gly) variant of PPARGC1A (Q9UBK2)
S165G (p.Ser165Gly) 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.
S165G (p.Ser165Gly) variant details
- p.Ser165Gly
- TOPMed rs1197100336
- gnomAD rs1197100336
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available