C44V (p.Cys44Val) variant of IL1R1 (Interleukin-1 receptor type 1)
C44V (p.Cys44Val) in IL1R1 (Interleukin-1 receptor type 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
C44V (p.Cys44Val) variant details
- p.Cys44Val
- gnomAD 2-102164838-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.64
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available