S94L (p.Ser94Leu) variant of IL2RG (P31785)
S94L (p.Ser94Leu) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S94L (p.Ser94Leu) variant details
- p.Ser94Leu
- rs775704953
- ClinGen CA10443894
- ClinVar RCV000941304
- ClinVar RCV003372919
- Conflicting interpretations
- Inborn genetic diseases; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- AlphaMissense 0.11
- MetaLR 0.68
- MetaSVM -0.07
- CADD 18.50
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; X-linked severe combined immunodeficien)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00084)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)