R59H (p.Arg59His) variant of IL4R (P24394)
R59H (p.Arg59His) in IL4R (P24394) 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 0.10 / 1. The record also includes population frequency data and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- ExAC rs770213018
- TOPMed rs770213018
- gnomAD rs770213018
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.13
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.062)
- Structural context available