R9C (p.Arg9Cys) variant of IL2RB (P14784)
R9C (p.Arg9Cys) 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 0.22 / 1. The record also includes population frequency data.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs143132364
- ClinGen CA10216783
- ClinVar RCV002005185
- 1000Genomes rs143132364
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.33
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)