V56L (p.Val56Leu) variant of IL1RN (P18510)
V56L (p.Val56Leu) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- 1000Genomes rs557348234
- TOPMed rs557348234
- gnomAD rs557348234
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.94
- CADD 12.70
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available