R48H (p.Arg48His) variant of IL33 (Interleukin-33)
R48H (p.Arg48His) in IL33 (Interleukin-33) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- rs770611056
- NCI-TCGA Cosmic COSV6734
- cosmic curated COSV67343
- ExAC rs770611056
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.27
- MetaLR 0.26
- MetaSVM -0.74
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available