L6S (p.Leu6Ser) variant of IL2RG (P31785)
L6S (p.Leu6Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L6S (p.Leu6Ser) variant details
- p.Leu6Ser
- rs2092264087
- ClinGen CA413497767
- ClinVar RCV001911807
- TOPMed rs2092264087
- Uncertain significance
- X-linked severe combined immunodeficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency; Inborn genetic diseas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)