P285Q (p.Pro285Gln) variant of ASS1 (Argininosuccinate synthase)
P285Q (p.Pro285Gln) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, 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 0.90 / 1. The record also includes population frequency data and structural context.
P285Q (p.Pro285Gln) variant details
- p.Pro285Gln
- TOPMed rs1313489293
- gnomAD rs1313489293
- Likely pathogenic
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available