E109K (p.Glu109Lys) variant of IL2RG (P31785)
E109K (p.Glu109Lys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs17875899
- ClinGen CA10443889
- ClinVar RCV000610972
- ClinVar RCV000638846
- Benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.28
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Benign (X-linked severe combined immunodeficiency)
- EBI: Benign (in dbSNP:rs17875899)
- UniProt: Benign (in dbSNP:rs17875899)
- Most common in the 1KG:CEU population (allele frequency 0.0056)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)