D33N (p.Asp33Asn) variant of PPARG (P37231)
D33N (p.Asp33Asn) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PPARG-related disorder. 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.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs1215582219
- TOPMed rs1215582219
- gnomAD rs1215582219
- Uncertain significance
- PPARG-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.71
- MetaLR 0.39
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (PPARG-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available