L5F (p.Leu5Phe) variant of IL10RA (Q13651)
L5F (p.Leu5Phe) 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 0.34 / 1. The record also includes population frequency data and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs1390054292
- ClinGen CA382771846
- ClinVar RCV002610842
- TOPMed rs1390054292
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.31
- MetaLR 0.37
- MetaSVM -0.68
- CADD 19.20
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available