F13L (p.Phe13Leu) variant of IL2RG (P31785)
F13L (p.Phe13Leu) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of IL2RG-related disorder; X-linked severe combined immunodeficiency; Inborn geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- rs1015272346
- ClinGen CA330970891
- ClinVar RCV001050625
- ClinVar RCV002553227
- Conflicting interpretations
- IL2RG-related disorder; X-linked severe combined immunodeficiency; Inborn geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.34
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (IL2RG-related disorder; X-linked severe combined immunodeficienc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00097)
- 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)