A258E (p.Ala258Glu) variant of ASS1 (Argininosuccinate synthase)
A258E (p.Ala258Glu) 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 0.71 / 1. The record also includes population frequency data and structural context.
A258E (p.Ala258Glu) variant details
- p.Ala258Glu
- ExAC rs753078725
- TOPMed rs753078725
- gnomAD rs753078725
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.77
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance (in CTLN1)
- UniProt: Uncertain significance (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available