I64V (p.Ile64Val) variant of PPARGC1A (Q9UBK2)
I64V (p.Ile64Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- rs1280883830
- ClinGen CA356607355
- ClinVar RCV004141474
- TOPMed rs1280883830
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.23
- MutPred 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available