A8A (p.Ala8Ala) variant of NOD2 (Q9HC29)
A8A (p.Ala8Ala) in NOD2 (Q9HC29) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 16-50697267-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 2.15
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available