W131R (p.Trp131Arg) variant of IL2RA (P01589)
W131R (p.Trp131Arg) in IL2RA (P01589) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
W131R (p.Trp131Arg) variant details
- p.Trp131Arg
- ExAC rs779802160
- TOPMed rs779802160
- gnomAD rs779802160
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.41
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available