S65N (p.Ser65Asn) variant of IRAK4 (Q9NWZ3)
S65N (p.Ser65Asn) 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.
S65N (p.Ser65Asn) variant details
- p.Ser65Asn
- gnomAD 12-43771252-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available