R133Q (p.Arg133Gln) variant of IRAK1 (P51617)
R133Q (p.Arg133Gln) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R133Q (p.Arg133Gln) variant details
- p.Arg133Gln
- ExAC rs782265613
- TOPMed rs782265613
- gnomAD rs782265613
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.06
- CADD 9.56
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00022)
- Structural context available