I111M (p.Ile111Met) variant of IL2RG (P31785)
I111M (p.Ile111Met) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I111M (p.Ile111Met) variant details
- p.Ile111Met
- rs1373609177
- ClinGen CA413496795
- ClinVar RCV002218710
- gnomAD rs1373609177
- Likely benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.42
- CADD 17.90
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Likely benign (X-linked severe combined immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)