R68W (p.Arg68Trp) variant of IL2RB (P14784)
R68W (p.Arg68Trp) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
R68W (p.Arg68Trp) variant details
- p.Arg68Trp
- rs375594279
- ClinGen CA10216726
- ClinVar RCV002043887
- ESP rs375594279
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.54
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)