A38G (p.Ala38Gly) variant of IRAK4 (Q9NWZ3)
A38G (p.Ala38Gly) 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 0.74 / 1. The record also includes population frequency data and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- rs1402262535
- ClinGen CA384464571
- ClinVar RCV000792389
- TOPMed rs1402262535
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.53
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available