G131D (p.Gly131Asp) variant of PPARGC1A (Q9UBK2)
G131D (p.Gly131Asp) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G131D (p.Gly131Asp) variant details
- p.Gly131Asp
- cosmic curated COSV53531
- ExAC rs762420400
- gnomAD rs762420400
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.30
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available