A10D (p.Ala10Asp) variant of ASS1 (Argininosuccinate synthase)
A10D (p.Ala10Asp) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- gnomAD 9-130452257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available