R8L (p.Arg8Leu) variant of IL1RN (P18510)
R8L (p.Arg8Leu) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- 1000Genomes rs538999895
- ExAC rs538999895
- TOPMed rs538999895
- gnomAD rs538999895
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- REVEL 0.07
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 0.66
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available