K119Q (p.Lys119Gln) variant of IL2RG (P31785)
K119Q (p.Lys119Gln) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K119Q (p.Lys119Gln) variant details
- p.Lys119Gln
- ExAC rs137852507
- gnomAD rs137852507
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- AlphaMissense 0.12
- MetaLR 0.74
- MetaSVM -0.08
- CADD 7.06
- PolyPhen-2 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available