R136Q (p.Arg136Gln) variant of IL2RG (P31785)
R136Q (p.Arg136Gln) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R136Q (p.Arg136Gln) variant details
- p.Arg136Gln
- rs753502444
- ClinGen CA10443881
- ClinVar RCV001521032
- 1000Genomes rs753502444
- Benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- REVEL 0.06
- CADD 8.59
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Benign (X-linked severe combined immunodeficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)