S3del (p.Ser3del) variant of NOD2 (Q9HC29)
S3del (p.Ser3del) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S3del (p.Ser3del) variant details
- gnomAD 16-50699501-CTCG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 17.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available