L165R (p.Leu165Arg) variant of IL2RG (P31785)
L165R (p.Leu165Arg) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L165R (p.Leu165Arg) variant details
- p.Leu165Arg
- rs758693125
- ClinGen CA10443860
- ClinVar RCV000941522
- ClinVar RCV003438607
- Conflicting interpretations
- not provided; Inborn genetic diseases; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.32
- CADD 18.90
- PolyPhen-2 0.11
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; X-linked severe combined)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00024)
- 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)