E33* (p.Glu33Ter) variant of ALDH2 (P05091)
E33* (p.Glu33Ter) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- gnomAD 12-111767079-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available