E21K (p.Glu21Lys) variant of IL7R (P16871)
E21K (p.Glu21Lys) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD 5-35857038-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.55
- CADD 27.50
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available