G21* (p.Gly21Ter) variant of NOD2 (Q9HC29)
G21* (p.Gly21Ter) in NOD2 (Q9HC29) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G21* (p.Gly21Ter) variant details
- p.Gly21Ter
- rs771671839
- ClinGen CA281248107
- ClinVar RCV003809237
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available