S19N (p.Ser19Asn) variant of IL10 (Interleukin-10)
S19N (p.Ser19Asn) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inflammatory bowel disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- rs139073251
- ClinGen CA1363851
- ClinVar RCV000903874
- 1000Genomes rs139073251
- Likely benign
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- CADD 14.60
- PolyPhen-2 0.26
- SIFT 0.11
- ClinVar: Likely benign (Inflammatory bowel disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available