D43H (p.Asp43His) variant of ASS1 (Argininosuccinate synthase)
D43H (p.Asp43His) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- gnomAD rs1167026676
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- CADD 28.60
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available