R164W (p.Arg164Trp) variant of PPARG (P37231)
R164W (p.Arg164Trp) in PPARG (P37231) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data.
R164W (p.Arg164Trp) variant details
- p.Arg164Trp
- rs1170672782
- NCI-TCGA Cosmic COSV5514
- cosmic curated COSV55144
- TOPMed rs1170672782
- Pathogenic
- PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (PPARG-related familial partial lipodystrophy)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)