R48R (p.Arg48Arg) variant of ASS1 (Argininosuccinate synthase)
R48R (p.Arg48Arg) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- rs756107583
- gnomAD 9-130454343-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 13.90
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available
- Literature evidence available