W74* (p.Trp74Ter) variant of ASS1 (Argininosuccinate synthase)
W74* (p.Trp74Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W74* (p.Trp74Ter) variant details
- p.Trp74Ter
- rs2490531268
- ClinGen CA375224998
- ClinVar RCV003594754
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available