Q49K (p.Gln49Lys) variant of IL1B (Interleukin-1 beta)
Q49K (p.Gln49Lys) 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 0.18 / 1. The record also includes population frequency data and structural context.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- rs529396429
- ClinGen CA1837360
- ClinVar RCV004077224
- ExAC rs529396429
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -0.88
- CADD 18.60
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available