D46G (p.Asp46Gly) variant of IL10 (Interleukin-10)
D46G (p.Asp46Gly) 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 0.10 / 1. The record also includes population frequency data and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- rs769965755
- ClinGen CA1363834
- ClinVar RCV003025916
- ExAC rs769965755
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.09
- CADD 7.82
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available