L41F (p.Leu41Phe) variant of IL10 (Interleukin-10)
L41F (p.Leu41Phe) 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 0.72 / 1. The record also includes population frequency data and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs750010814
- ClinGen CA1363841
- ClinVar RCV001986893
- ExAC rs750010814
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available