G131S (p.Gly131Ser) variant of PPARGC1A (Q9UBK2)
G131S (p.Gly131Ser) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G131S (p.Gly131Ser) variant details
- p.Gly131Ser
- cosmic curated COSV53533
- TOPMed rs933778371
- gnomAD rs933778371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.27
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available