W155R (p.Trp155Arg) variant of IL2RG (P31785)
W155R (p.Trp155Arg) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
W155R (p.Trp155Arg) variant details
- p.Trp155Arg
- rs2147749841
- ClinGen CA413496495
- ClinVar RCV001867493
- ClinVar RCV005861255
- Uncertain significance
- not provided; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.36
- MetaLR 0.61
- MetaSVM -0.30
- PolyPhen-2 0.03
- SIFT 0.84
- EVE 0.34
- ClinVar: Uncertain significance (not provided; X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)