A51T (p.Ala51Thr) variant of ASS1 (Argininosuccinate synthase)
A51T (p.Ala51Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs142350255
- ClinGen CA5283165
- ClinVar RCV001351742
- ClinVar RCV001831176
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 28.30
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)