G52A (p.Gly52Ala) variant of IL2RB (P14784)
G52A (p.Gly52Ala) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- ExAC rs764846722
- TOPMed rs764846722
- gnomAD rs764846722
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.19
- CADD 1.59
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)