Q136K (p.Gln136Lys) variant of PPARGC1A (Q9UBK2)
Q136K (p.Gln136Lys) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes population frequency data and structural context.
Q136K (p.Gln136Lys) variant details
- p.Gln136Lys
- rs1379682024
- ClinGen CA356602222
- ClinVar RCV004233270
- TOPMed rs1379682024
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available