E75Q (p.Glu75Gln) variant of IL2RB (P14784)
E75Q (p.Glu75Gln) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
E75Q (p.Glu75Gln) variant details
- p.Glu75Gln
- ExAC rs763830083
- TOPMed rs763830083
- gnomAD rs763830083
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.28
- CADD 0.37
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00057)