D43N (p.Asp43Asn) variant of ASS1 (Argininosuccinate synthase)
D43N (p.Asp43Asn) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD 9-130454326-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.67
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available