R117K (p.Arg117Lys) variant of IL2RB (P14784)
R117K (p.Arg117Lys) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R117K (p.Arg117Lys) variant details
- p.Arg117Lys
- TOPMed rs1414118090
- gnomAD rs1414118090
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.34
- CADD 7.32
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)