A47V (p.Ala47Val) variant of ASS1 (Argininosuccinate synthase)
A47V (p.Ala47Val) 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; not specified; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs1301161301
- ClinGen CA375223769
- ClinVar RCV001992848
- ClinVar RCV003401949
- Uncertain significance
- Citrullinemia; not specified; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.69
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.42
- ClinVar: Uncertain significance (Citrullinemia; not specified; Citrullinemia type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)