L11P (p.Leu11Pro) variant of IL2RG (P31785)
L11P (p.Leu11Pro) 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 0.65 / 1. The record also includes published literature and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs1204738180
- ClinGen CA413497734
- ClinVar RCV002005549
- TOPMed rs1204738180
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.21
- MetaLR 0.83
- MetaSVM 0.29
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.44
- 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)