G52R (p.Gly52Arg) variant of IL2RB (P14784)
G52R (p.Gly52Arg) in IL2RB (P14784) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- TOPMed rs1378071597
- gnomAD rs1378071597
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.19
- CADD 11.00
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)