V59V (p.Val59Val) variant of ASS1 (Argininosuccinate synthase)
V59V (p.Val59Val) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V59V (p.Val59Val) variant details
- p.Val59Val
- rs781678927
- gnomAD 9-130458403-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available