E59K (p.Glu59Lys) variant of IL2RG (P31785)
E59K (p.Glu59Lys) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- Ensembl rs2092262517
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.92
- CADD 21.80
- PolyPhen-2 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available