I14L (p.Ile14Leu) variant of IL2RA (P01589)
I14L (p.Ile14Leu) in IL2RA (P01589) 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 0.11 / 1. The record also includes population frequency data and structural context.
I14L (p.Ile14Leu) variant details
- p.Ile14Leu
- ExAC rs781222262
- TOPMed rs781222262
- gnomAD rs781222262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.00
- CADD 5.09
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available