E67D (p.Glu67Asp) variant of ASS1 (Argininosuccinate synthase)
E67D (p.Glu67Asp) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- gnomAD 9-130458427-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.60
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available