L13M (p.Leu13Met) variant of IL10 (Interleukin-10)
L13M (p.Leu13Met) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- rs769236514
- ClinGen CA1363854
- ClinVar RCV002036385
- ExAC rs769236514
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available