E99K (p.Glu99Lys) variant of IL1RAPL1 (Q9NZN1)
E99K (p.Glu99Lys) in IL1RAPL1 (Q9NZN1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E99K (p.Glu99Lys) variant details
- p.Glu99Lys
- gnomAD X-29283150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.49
- CADD 27.70
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available