G5V (p.Gly5Val) variant of IL7R (P16871)
G5V (p.Gly5Val) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 5-35856991-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available