p.Arg5dup variant of RAI1 (Retinoic acid-induced protein 1)
p.Arg5dup in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg5dup variant details
- gnomAD 17-17792960-T-TCG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available