K120E (p.Lys120Glu) variant of IL2RG (P31785)
K120E (p.Lys120Glu) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K120E (p.Lys120Glu) variant details
- p.Lys120Glu
- rs2519647190
- ClinGen CA413496742
- ClinVar RCV003622906
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.30
- CADD 5.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)