R111H (p.Arg111His) variant of IL2RB (P14784)
R111H (p.Arg111His) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
R111H (p.Arg111His) variant details
- p.Arg111His
- rs137877148
- ClinGen CA10216666
- ClinVar RCV002003740
- ClinVar RCV004045205
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.34
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)