R164Q (p.Arg164Gln) variant of PPARG (P37231)
R164Q (p.Arg164Gln) in PPARG (P37231) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of PPARG-related familial partial lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
R164Q (p.Arg164Gln) variant details
- p.Arg164Gln
- NCI-TCGA Cosmic COSV5514
- cosmic curated COSV55140
- TOPMed rs2050117106
- Likely pathogenic
- PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (PPARG-related familial partial lipodystrophy)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)