F38L (p.Phe38Leu) variant of IL10RA (Q13651)
F38L (p.Phe38Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- rs200175106
- ClinGen CA6298836
- ClinVar RCV001036342
- 1000Genomes rs200175106
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.98
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available