N37T (p.Asn37Thr) variant of ASS1 (Argininosuccinate synthase)
N37T (p.Asn37Thr) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N37T (p.Asn37Thr) variant details
- p.Asn37Thr
- TOPMed rs1412223944
- gnomAD rs1412223944
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.81
- CADD 23.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available