V318M (p.Val318Met) variant of PPARG (P37231)
V318M (p.Val318Met) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PPARG-related familial partial lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
V318M (p.Val318Met) variant details
- p.Val318Met
- rs72551362
- ClinGen CA119321
- ClinVar RCV000008613
- UniProt VAR 010727
- Pathogenic
- PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.61
- MetaLR 0.58
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic (PPARG-related familial partial lipodystrophy)
- 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)