S23A (p.Ser23Ala) variant of IRAK4 (Q9NWZ3)
S23A (p.Ser23Ala) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S23A (p.Ser23Ala) variant details
- p.Ser23Ala
- gnomAD 12-43768178-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available