V59M (p.Val59Met) variant of ASS1 (Argininosuccinate synthase)
V59M (p.Val59Met) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V59M (p.Val59Met) variant details
- p.Val59Met
- gnomAD rs1390986372
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.72
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available