S18S (p.Ser18Ser) variant of ASS1 (Argininosuccinate synthase)
S18S (p.Ser18Ser) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs768923973
- gnomAD 9-130452282-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 8.46
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available