Q29P (p.Gln29Pro) variant of IRAK4 (Q9NWZ3)
Q29P (p.Gln29Pro) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital dyserythropoietic anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs2540411559
- ClinGen CA384464506
- ClinVar RCV003326054
- Uncertain significance
- Congenital dyserythropoietic anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Uncertain significance (Congenital dyserythropoietic anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available