Y158C (p.Tyr158Cys) variant of PPARGC1A (Q9UBK2)
Y158C (p.Tyr158Cys) 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 0.44 / 1. The record also includes population frequency data and structural context.
Y158C (p.Tyr158Cys) variant details
- p.Tyr158Cys
- TOPMed rs1226020548
- gnomAD rs1226020548
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- CADD 24.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available