Q116H (p.Gln116His) variant of IL2RG (P31785)
Q116H (p.Gln116His) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q116H (p.Gln116His) variant details
- p.Gln116His
- rs778547446
- ClinGen CA10443885
- ClinVar RCV001517355
- ExAC rs778547446
- Likely benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.19
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely benign (X-linked severe combined immunodeficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00061)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)