P154S (p.Pro154Ser) variant of IL2RG (P31785)
P154S (p.Pro154Ser) 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 0.92 / 1. The record also includes published literature and structural context.
P154S (p.Pro154Ser) variant details
- p.Pro154Ser
- rs1064793153
- ClinGen CA16621485
- ClinVar RCV000480139
- ClinVar RCV002525762
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.77
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)