A33A (p.Ala33Ala) variant of ASS1 (Argininosuccinate synthase)
A33A (p.Ala33Ala) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs147842617
- gnomAD 9-130452327-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 12.80
- Most common in the 1KG:MSL population (allele frequency 0.025)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)