R69W (p.Arg69Trp) variant of IL2RB (P14784)
R69W (p.Arg69Trp) 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 0.28 / 1. The record also includes population frequency data.
R69W (p.Arg69Trp) variant details
- p.Arg69Trp
- rs117728347
- ClinGen CA10216691
- NCI-TCGA Cosmic COSV5342
- ClinVar RCV002582477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.38
- CADD 12.00
- PolyPhen-2 0.62
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)