V152G (p.Val152Gly) variant of IL2RG (P31785)
V152G (p.Val152Gly) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V152G (p.Val152Gly) variant details
- p.Val152Gly
- rs193922348
- ClinGen CA413496508
- ClinVar RCV000766121
- Ensembl rs193922348
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.71
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)