D54N (p.Asp54Asn) variant of IL1B (Interleukin-1 beta)
D54N (p.Asp54Asn) 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 0.13 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- rs568715066
- ClinGen CA1837356
- ClinVar RCV004290543
- 1000Genomes rs568715066
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.04
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available