F68S (p.Phe68Ser) variant of ASS1 (Argininosuccinate synthase)
F68S (p.Phe68Ser) 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.
F68S (p.Phe68Ser) variant details
- p.Phe68Ser
- gnomAD 9-130458429-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available