D30E (p.Asp30Glu) variant of ASS1 (Argininosuccinate synthase)
D30E (p.Asp30Glu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- gnomAD 9-130452318-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.56
- CADD 1.21
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available