S94* (p.Ser94Ter) variant of IL2RG (P31785)
S94* (p.Ser94Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S94* (p.Ser94Ter) variant details
- p.Ser94Ter
- rs775704953
- ClinGen CA413496915
- ClinVar RCV000579336
- ClinVar RCV003509571
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.11
- MetaLR 0.68
- MetaSVM -0.07
- PolyPhen-2 0.96
- SIFT 0.10
- EVE 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)