S18* (p.Ser18Ter) variant of ASS1 (Argininosuccinate synthase)
S18* (p.Ser18Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- cosmic curated COSV10943
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 37.00
- Population evidence available
- Structural context available