G232V (p.Gly232Val) variant of IL2RG (P31785)
G232V (p.Gly232Val) 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 0.54 / 1. The record also includes published literature and structural context.
G232V (p.Gly232Val) variant details
- p.Gly232Val
- rs2147748189
- ClinGen CA413495948
- ClinVar RCV001594437
- Ensembl rs2147748189
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.92
- MetaLR 0.40
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic (in XSCID)
- UniProt: Likely pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)