E34V (p.Glu34Val) variant of IL7R (P16871)
E34V (p.Glu34Val) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E34V (p.Glu34Val) variant details
- p.Glu34Val
- gnomAD 5-35860870-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available