D124E (p.Asp124Glu) variant of ASS1 (Argininosuccinate synthase)
D124E (p.Asp124Glu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- TOPMed rs1845669418
- Likely pathogenic
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.90
- CADD 23.20
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Likely pathogenic (Citrullinemia type I)
- UniProt: Likely pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available