A156V (p.Ala156Val) variant of IL2RG (P31785)
A156V (p.Ala156Val) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; 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.
A156V (p.Ala156Val) variant details
- p.Ala156Val
- rs1057521062
- ClinGen CA16608907
- ClinVar RCV000435698
- ClinVar RCV001235346
- Likely pathogenic
- not provided; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.49
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.45
- ClinVar: Likely pathogenic (not provided; X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. (PMID 9058718)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)