D38E (p.Asp38Glu) variant of IL1B (Interleukin-1 beta)
D38E (p.Asp38Glu) in IL1B (Interleukin-1 beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs918845589
- ClinGen CA53699039
- ClinVar RCV004119204
- gnomAD rs918845589
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.99
- CADD 13.20
- PolyPhen-2 0.52
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available