G163S (p.Gly163Ser) variant of PPARGC1A (Q9UBK2)
G163S (p.Gly163Ser) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G163S (p.Gly163Ser) variant details
- p.Gly163Ser
- rs1166778125
- gnomAD rs1166778125
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.22
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available