Q136* (p.Gln136Ter) variant of PPARGC1A (Q9UBK2)
Q136* (p.Gln136Ter) in PPARGC1A (Q9UBK2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q136* (p.Gln136Ter) variant details
- p.Gln136Ter
- TOPMed rs1379682024
- gnomAD rs1379682024
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available