A8P (p.Ala8Pro) variant of NOD2 (Q9HC29)
A8P (p.Ala8Pro) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- rs1213629611
- gnomAD 16-50697264-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available