I297T (p.Ile297Thr) variant of ASS1 (Argininosuccinate synthase)
I297T (p.Ile297Thr) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
I297T (p.Ile297Thr) variant details
- p.Ile297Thr
- TOPMed rs1257594301
- gnomAD rs1257594301
- Likely pathogenic
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.94
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Likely pathogenic (Citrullinemia)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available