R12H (p.Arg12His) variant of IRAK4 (Q9NWZ3)
R12H (p.Arg12His) 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 0.70 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- rs370524518
- ClinGen CA6522264
- ClinVar RCV000791511
- ESP rs370524518
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance (in IMD67)
- UniProt: Uncertain significance (in IMD67)
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available