L11H (p.Leu11His) variant of IL2RG (P31785)
L11H (p.Leu11His) in IL2RG (P31785) 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 0.55 / 1. The record also includes population frequency data and structural context.
L11H (p.Leu11His) variant details
- p.Leu11His
- TOPMed rs1204738180
- gnomAD rs1204738180
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.50
- AlphaMissense 0.21
- MetaLR 0.83
- MetaSVM 0.29
- CADD 23.90
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available