P28S (p.Pro28Ser) variant of IRAK4 (Q9NWZ3)
P28S (p.Pro28Ser) 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.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD 12-43768193-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available