R25E (p.Arg25Glu) variant of IL1RAPL1 (Q9NZN1)
R25E (p.Arg25Glu) in IL1RAPL1 (Q9NZN1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R25E (p.Arg25Glu) variant details
- p.Arg25Glu
- gnomAD X-28789412-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available