L132H (p.Leu132His) variant of IL2RG (P31785)
L132H (p.Leu132His) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 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.
L132H (p.Leu132His) variant details
- p.Leu132His
- rs2092261278
- ClinGen CA413496652
- ClinVar RCV002026875
- ClinVar RCV003491018
- Conflicting interpretations
- not specified; 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: Conflicting classifications of pathogenicity (not specified; X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)