L11F (p.Leu11Phe) variant of IL2RG (P31785)
L11F (p.Leu11Phe) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1394628494
- ClinGen CA413497738
- ClinVar RCV002299717
- gnomAD rs1394628494
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.14
- CADD 0.41
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)