R8H (p.Arg8His) variant of IL1RN (P18510)
R8H (p.Arg8His) in IL1RN (P18510) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs538999895
- ClinGen CA1838741
- ClinVar RCV000513390
- 1000Genomes rs538999895
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0643
- REVEL 0.06
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.01)
- Structural context available