P65R (p.Pro65Arg) variant of IL2RB (P14784)
P65R (p.Pro65Arg) in IL2RB (P14784) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P65R (p.Pro65Arg) variant details
- p.Pro65Arg
- ESP rs371340355
- ExAC rs371340355
- TOPMed rs371340355
- gnomAD rs371340355
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- CADD 21.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)