K180E (p.Lys180Glu) variant of IRAK1 (P51617)
K180E (p.Lys180Glu) in IRAK1 (P51617) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K180E (p.Lys180Glu) variant details
- p.Lys180Glu
- rs1387376337
- gnomAD X-154011101-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 5.43
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available