S3I (p.Ser3Ile) variant of ASS1 (Argininosuccinate synthase)
S3I (p.Ser3Ile) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S3I (p.Ser3Ile) variant details
- p.Ser3Ile
- gnomAD 9-130452235-AGCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available