P495L (p.Pro495Leu) variant of PPARG (P37231)
P495L (p.Pro495Leu) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PPARG-related familial partial lipodystrophy; not provided; Lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
P495L (p.Pro495Leu) variant details
- p.Pro495Leu
- rs121909244
- ClinGen CA119319
- ClinVar RCV000008612
- ClinVar RCV001248978
- Pathogenic/Likely pathogenic
- PPARG-related familial partial lipodystrophy; not provided; Lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (PPARG-related familial partial lipodystrophy; not provided; Lipo)
- EBI: Pathogenic (in diabetes)
- UniProt: Pathogenic (in diabetes)
- Population evidence available
- Cited in: Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and… (PMID 10622252)
- Cited in: Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome… (PMID 12663460)