A51A (p.Ala51Ala) variant of ASS1 (Argininosuccinate synthase)
A51A (p.Ala51Ala) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A51A (p.Ala51Ala) variant details
- p.Ala51Ala
- rs1303466623
- gnomAD 9-130454352-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.24
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available