p.Ala34dup variant of ID3 (Q02535)
p.Ala34dup in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala34dup variant details
- gnomAD 1-23559328-T-TGCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available