D16A (p.Asp16Ala) variant of ASS1 (Argininosuccinate synthase)
D16A (p.Asp16Ala) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- gnomAD 9-130452275-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available