Q45K (p.Gln45Lys) variant of IL1RN (P18510)
Q45K (p.Gln45Lys) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q45K (p.Gln45Lys) variant details
- p.Gln45Lys
- TOPMed rs1019766125
- gnomAD rs1019766125
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.14
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available