P3R (p.Pro3Arg) variant of IL10RA (Q13651)
P3R (p.Pro3Arg) 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 0.12 / 1. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs56008037
- ClinGen CA6298790
- ClinVar RCV001218593
- 1000Genomes rs56008037
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.99
- CADD 0.23
- PolyPhen-2 0.03
- SIFT 0.39
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available