C62S (p.Cys62Ser) variant of IL2RG (P31785)
C62S (p.Cys62Ser) 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 0.96 / 1. The record also includes published literature and structural context.
C62S (p.Cys62Ser) variant details
- p.Cys62Ser
- rs1602289649
- ClinGen CA413497161
- ClinVar RCV000788884
- ClinVar RCV004765338
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)