F388L (p.Phe388Leu) variant of PPARG (P37231)
F388L (p.Phe388Leu) 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 0.79 / 1. The record also includes published literature.
F388L (p.Phe388Leu) variant details
- p.Phe388Leu
- rs72551363
- ClinGen CA119326
- ClinVar RCV000008618
- UniProt VAR 022700
- Pathogenic
- PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.38
- ClinVar: Pathogenic (PPARG-related familial partial lipodystrophy)
- EBI: Pathogenic (in FPLD3)
- UniProt: Pathogenic (in FPLD3)
- Cited in: PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. (PMID 12453919)
- Cited in: A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial… (PMID 11788685)