P214L (p.Pro214Leu) variant of PPARG (P37231)
P214L (p.Pro214Leu) 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 0.82 / 1. The record also includes population frequency data.
P214L (p.Pro214Leu) variant details
- p.Pro214Leu
- rs2050642774
- NCI-TCGA Cosmic COSV5514
- cosmic curated COSV55145
- ClinVar RCV004584241
- Pathogenic
- PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (PPARG-related familial partial lipodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available