V22M (p.Val22Met) variant of ASS1 (Argininosuccinate synthase)
V22M (p.Val22Met) 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 0.70 / 1. The record also includes population frequency data and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- ExAC rs762279472
- TOPMed rs762279472
- gnomAD rs762279472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.74
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available