Q23* (p.Gln23Ter) variant of ALDH2 (P05091)
Q23* (p.Gln23Ter) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- gnomAD 12-111767049-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available