L15P (p.Leu15Pro) variant of IL10RA (Q13651)
L15P (p.Leu15Pro) 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 0.61 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs1452066804
- ClinGen CA382771999
- ClinVar RCV002943874
- TOPMed rs1452066804
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.55
- MetaLR 0.50
- MetaSVM -0.53
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.06
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-05)
- Structural context available