F60C (p.Phe60Cys) variant of ASS1 (Argininosuccinate synthase)
F60C (p.Phe60Cys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- ExAC rs746316364
- gnomAD rs746316364
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.86
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available