R69Q (p.Arg69Gln) variant of IL2RB (P14784)
R69Q (p.Arg69Gln) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs992633708
- ClinGen CA324055191
- ClinVar RCV002004773
- ClinVar RCV004043947
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.30
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)