W57R (p.Trp57Arg) variant of PPARGC1A (Q9UBK2)
W57R (p.Trp57Arg) 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 0.61 / 1. The record also includes population frequency data and structural context.
W57R (p.Trp57Arg) variant details
- p.Trp57Arg
- TOPMed rs1437966460
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.57
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available