G21R (p.Gly21Arg) variant of NOD2 (Q9HC29)
G21R (p.Gly21Arg) 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; Regional enteritis. 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.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs771671839
- ClinGen CA8051171
- ClinVar RCV002538183
- Uncertain significance
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- MetaLR 0.15
- MetaSVM -0.96
- CADD 0.41
- SIFT 0.16
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available