E37D (p.Glu37Asp) variant of IL23R (Interleukin-23 receptor)
E37D (p.Glu37Asp) in IL23R (Interleukin-23 receptor) 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 0.44 / 1. The record also includes population frequency data and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- ExAC rs762697123
- gnomAD rs762697123
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.53
- CADD 16.40
- PolyPhen-2 0.36
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available