R48L (p.Arg48Leu) variant of IL33 (Interleukin-33)
R48L (p.Arg48Leu) in IL33 (Interleukin-33) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- gnomAD 9-6250525-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.51
- MetaLR 0.30
- MetaSVM -0.61
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available