S18* (p.Ser18Ter) variant of ALDH2 (P05091)
S18* (p.Ser18Ter) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- gnomAD 12-111767035-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available