S166R (p.Ser166Arg) variant of IL2RG (P31785)
S166R (p.Ser166Arg) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S166R (p.Ser166Arg) variant details
- p.Ser166Arg
- 1000Genomes rs199593676
- TOPMed rs199593676
- gnomAD rs199593676
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.42
- CADD 20.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the 1KG:CHB population (allele frequency 0.0064)
- Structural context available