R48C (p.Arg48Cys) variant of IL33 (Interleukin-33)
R48C (p.Arg48Cys) in IL33 (Interleukin-33) 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 0.44 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs200883197
- ClinGen CA4978749
- ClinVar RCV004253947
- ESP rs200883197
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.25
- MetaLR 0.19
- MetaSVM -0.66
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available