P40A (p.Pro40Ala) variant of PPARG (P37231)
P40A (p.Pro40Ala) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- rs1805192
- ClinGen CA119314
- ClinVar RCV000008604
- UniProt VAR 016116
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.70
- PolyPhen-2 0.35
- SIFT 0.01
- MutPred 0.26
- ClinVar: Benign (in dbSNP:rs1805192)
- EBI: Benign (in dbSNP:rs1805192)
- UniProt: Benign (in dbSNP:rs1805192)
- Structural context available
- Cited in: Use of unlinked genetic markers to detect population stratification in association studies. (PMID 10364535)
- Cited in: Two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene are associated with severe overweight… (PMID 10523018)