W155S (p.Trp155Ser) variant of IL2RG (P31785)
W155S (p.Trp155Ser) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
W155S (p.Trp155Ser) variant details
- p.Trp155Ser
- rs1485784611
- ClinGen CA413496491
- ClinVar RCV003043316
- Ensembl rs1485784611
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.17
- MetaLR 0.53
- MetaSVM -0.04
- PolyPhen-2 0.89
- SIFT 0.29
- EVE 0.32
- ClinVar: Uncertain significance (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)