G31R (p.Gly31Arg) variant of IRAK4 (Q9NWZ3)
G31R (p.Gly31Arg) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs2137901159
- ClinGen CA384464519
- ClinVar RCV001883771
- Ensembl rs2137901159
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.70
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available