E12E (p.Glu12Glu) variant of NOD2 (Q9HC29)
E12E (p.Glu12Glu) in NOD2 (Q9HC29) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs149939201
- gnomAD 16-50697279-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0853
- CADD 0.74
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available