D63G (p.Asp63Gly) variant of ASS1 (Argininosuccinate synthase)
D63G (p.Asp63Gly) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- rs1305436274
- gnomAD 9-130458413-GAT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available