S66F (p.Ser66Phe) variant of PPARGC1A (Q9UBK2)
S66F (p.Ser66Phe) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S66F (p.Ser66Phe) variant details
- p.Ser66Phe
- rs1259694270
- NCI-TCGA Cosmic COSV5353
- TOPMed rs1259694270
- gnomAD rs1259694270
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.41
- CADD 26.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available