L132R (p.Leu132Arg) variant of IL2RG (P31785)
L132R (p.Leu132Arg) 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 0.75 / 1. The record also includes published literature and structural context.
L132R (p.Leu132Arg) variant details
- p.Leu132Arg
- rs2092261278
- ClinGen CA413496650
- ClinVar RCV001348095
- Ensembl rs2092261278
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.69
- MetaLR 0.70
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)