R48G (p.Arg48Gly) variant of ASS1 (Argininosuccinate synthase)
R48G (p.Arg48Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- rs374695792
- ClinGen CA5283163
- ClinVar RCV001247594
- ClinVar RCV002241806
- Uncertain significance
- Citrullinemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.75
- CADD 26.60
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Citrullinemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)