Q314P (p.Gln314Pro) variant of PPARG (P37231)
Q314P (p.Gln314Pro) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature.
Q314P (p.Gln314Pro) variant details
- p.Gln314Pro
- rs121909242
- ClinGen CA250555
- ClinVar RCV000008609
- UniProt VAR 010725
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.91
- MetaLR 0.57
- MetaSVM 0.22
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.60
- ClinVar: Pathogenic (Carcinoma of colon)
- EBI: Pathogenic (in colon cancer)
- UniProt: Pathogenic (in colon cancer)
- Cited in: Loss-of-function mutations in PPAR gamma associated with human colon cancer. (PMID 10394368)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)