Q144R (p.Gln144Arg) variant of IL2RG (P31785)
Q144R (p.Gln144Arg) in IL2RG (P31785) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q144R (p.Gln144Arg) variant details
- p.Gln144Arg
- TOPMed rs752240137
- gnomAD rs752240137
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.31
- CADD 13.50
- PolyPhen-2 0.07
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in XSCID)
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available