A47D (p.Ala47Asp) variant of ASS1 (Argininosuccinate synthase)
A47D (p.Ala47Asp) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A47D (p.Ala47Asp) variant details
- p.Ala47Asp
- TOPMed rs1301161301
- gnomAD rs1301161301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.90
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available