L13F (p.Leu13Phe) variant of IL10RA (Q13651)
L13F (p.Leu13Phe) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs2057987183
- ClinGen CA382771975
- ClinVar RCV001339319
- Ensembl rs2057987183
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.59
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.15
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available