E42G (p.Glu42Gly) variant of ASS1 (Argininosuccinate synthase)
E42G (p.Glu42Gly) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- gnomAD 9-130454324-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available