p.Ala21dup variant of ALDH2 (P05091)
p.Ala21dup in ALDH2 (P05091) 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.Ala21dup variant details
- gnomAD 12-111767036-A-AG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available