V48M (p.Val48Met) variant of IL7R (P16871)
V48M (p.Val48Met) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- gnomAD 5-35860911-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.37
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available