K57R (p.Lys57Arg) variant of ASS1 (Argininosuccinate synthase)
K57R (p.Lys57Arg) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- gnomAD 9-130454369-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.48
- CADD 19.30
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available