R59C (p.Arg59Cys) variant of IL4R (P24394)
R59C (p.Arg59Cys) 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 0.20 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs191774649
- ClinGen CA7974149
- cosmic curated COSV50144
- ClinVar RCV004205806
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.11
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available