F48S (p.Phe48Ser) variant of IL1RN (P18510)
F48S (p.Phe48Ser) in IL1RN (P18510) is a protein-truncating 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.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- rs1011480433
- gnomAD 2-113129598-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available