p.Gly14dup variant of ASS1 (Argininosuccinate synthase)
p.Gly14dup in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly14dup variant details
- gnomAD 9-130452262-A-AGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available