D16H (p.Asp16His) variant of ASS1 (Argininosuccinate synthase)
D16H (p.Asp16His) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- Ensembl rs1845345553
- Uncertain significance
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Citrullinemia type I)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available