I38I (p.Ile38Ile) variant of ASS1 (Argininosuccinate synthase)
I38I (p.Ile38Ile) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I38I (p.Ile38Ile) variant details
- p.Ile38Ile
- gnomAD 9-130454313-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available