M40V (p.Met40Val) variant of IL10 (Interleukin-10)
M40V (p.Met40Val) 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 0.57 / 1. The record also includes population frequency data and structural context.
M40V (p.Met40Val) variant details
- p.Met40Val
- rs755837237
- ClinGen CA1363842
- ClinVar RCV003086853
- ExAC rs755837237
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.22
- MetaLR 0.53
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available