Y34del (p.Tyr34del) variant of ASS1 (Argininosuccinate synthase)
Y34del (p.Tyr34del) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y34del (p.Tyr34del) variant details
- gnomAD 9-130452328-TATC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available