R136W (p.Arg136Trp) variant of IL2RG (P31785)
R136W (p.Arg136Trp) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R136W (p.Arg136Trp) variant details
- p.Arg136Trp
- rs758080286
- ClinGen CA330970071
- ClinVar RCV000638844
- TOPMed rs758080286
- Likely benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Likely benign (X-linked severe combined immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)