K58K (p.Lys58Lys) variant of ASS1 (Argininosuccinate synthase)
K58K (p.Lys58Lys) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K58K (p.Lys58Lys) variant details
- p.Lys58Lys
- rs1344685348
- gnomAD 9-130454373-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available