W3R (p.Trp3Arg) variant of PPARGC1A (Q9UBK2)
W3R (p.Trp3Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
W3R (p.Trp3Arg) variant details
- p.Trp3Arg
- rs981976152
- ClinGen CA94205212
- ClinVar RCV004111787
- Ensembl rs981976152
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.42
- CADD 31.00
- 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