A164T (p.Ala164Thr) variant of ASS1 (Argininosuccinate synthase)
A164T (p.Ala164Thr) 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; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A164T (p.Ala164Thr) variant details
- p.Ala164Thr
- rs201445618
- ClinGen CA200614156
- ClinVar RCV001944555
- ClinVar RCV002482535
- Uncertain significance
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.88
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.03
- ClinVar: Uncertain significance (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)