P138S (p.Pro138Ser) variant of IL2RG (P31785)
P138S (p.Pro138Ser) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P138S (p.Pro138Ser) variant details
- p.Pro138Ser
- rs1266997803
- ClinGen CA413496614
- ClinVar RCV001875385
- TOPMed rs1266997803
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.18
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.66
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)