R15G (p.Arg15Gly) variant of NOD2 (Q9HC29)
R15G (p.Arg15Gly) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Blau syndrome; Inflammatory bowel disease 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs1963694151
- ClinGen CA395864350
- ClinVar RCV001116651
- ClinVar RCV001784649
- Uncertain significance
- Blau syndrome; Inflammatory bowel disease 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- MetaLR 0.14
- MetaSVM -0.93
- CADD 10.80
- SIFT 0.18
- ClinVar: Uncertain significance (Blau syndrome; Inflammatory bowel disease 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available