P285S (p.Pro285Ser) variant of ASS1 (Argininosuccinate synthase)
P285S (p.Pro285Ser) 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 0.90 / 1. The record also includes population frequency data and structural context.
P285S (p.Pro285Ser) variant details
- p.Pro285Ser
- rs1414109637
- ClinGen CA375230472
- ClinVar RCV002623055
- gnomAD rs1414109637
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available