Q50K (p.Gln50Lys) variant of IRAK4 (Q9NWZ3)
Q50K (p.Gln50Lys) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- gnomAD 12-43768259-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available