E54K (p.Glu54Lys) variant of PPARG (P37231)
E54K (p.Glu54Lys) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs777334819
- gnomAD 3-12379856-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.14
- MetaLR 0.23
- MetaSVM -0.89
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available