Q101K (p.Gln101Lys) variant of IL10 (Interleukin-10)
Q101K (p.Gln101Lys) 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 0.22 / 1. The record also includes population frequency data and structural context.
Q101K (p.Gln101Lys) variant details
- p.Gln101Lys
- rs777582308
- ClinGen CA1363783
- ClinVar RCV001941321
- ExAC rs777582308
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.09
- CADD 13.90
- PolyPhen-2 0.03
- SIFT 0.93
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available