E3Q (p.Glu3Gln) variant of PPARG (P37231)
E3Q (p.Glu3Gln) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- rs1246297562
- gnomAD 3-12379724-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available