G75C (p.Gly75Cys) variant of IRAK4 (Q9NWZ3)
G75C (p.Gly75Cys) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G75C (p.Gly75Cys) variant details
- p.Gly75Cys
- gnomAD 12-43771281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available