W90L (p.Trp90Leu) variant of IL2RG (P31785)
W90L (p.Trp90Leu) 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 0.58 / 1. The record also includes published literature and structural context.
W90L (p.Trp90Leu) variant details
- p.Trp90Leu
- rs2092262308
- ClinGen CA413496957
- NCI-TCGA Cosmic COSV9934
- ClinVar RCV001238084
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.25
- MetaLR 0.68
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.61
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)