W179C (p.Trp179Cys) variant of ASS1 (Argininosuccinate synthase)
W179C (p.Trp179Cys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W179C (p.Trp179Cys) variant details
- p.Trp179Cys
- rs1409764603
- ClinGen CA375227211
- ClinVar RCV001977637
- gnomAD rs1409764603
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.93
- CADD 27.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance (in CTLN1)
- UniProt: Uncertain significance (in CTLN1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available