F391L (p.Phe391Leu) variant of ASS1 (Argininosuccinate synthase)
F391L (p.Phe391Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F391L (p.Phe391Leu) variant details
- p.Phe391Leu
- rs1554725724
- ClinGen CA375232708
- ClinVar RCV000497925
- ClinVar RCV000984146
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)