E34D (p.Glu34Asp) variant of IL7R (P16871)
E34D (p.Glu34Asp) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 5-35860871-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.29
- CADD 16.90
- PolyPhen-2 0.65
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available