G5R (p.Gly5Arg) variant of NOD2 (Q9HC29)
G5R (p.Gly5Arg) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Blau syndrome; Regional enteritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs140977130
- ClinGen CA8051162
- ClinVar RCV002540760
- Likely benign
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- MetaLR 0.13
- MetaSVM -0.98
- CADD 10.40
- SIFT 0.00
- ClinVar: Likely benign (Blau syndrome; Regional enteritis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.0012)
- Structural context available