G58E (p.Gly58Glu) variant of IL1RN (P18510)
G58E (p.Gly58Glu) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- TOPMed rs1281227831
- gnomAD rs1281227831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.39
- MetaLR 0.09
- MetaSVM -1.10
- CADD 24.60
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available