P96T (p.Pro96Thr) variant of ASS1 (Argininosuccinate synthase)
P96T (p.Pro96Thr) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of See cases; Citrullinemia type I; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P96T (p.Pro96Thr) variant details
- p.Pro96Thr
- rs2131874080
- ClinGen CA375225210
- ClinVar RCV002221688
- ClinVar RCV003485733
- Likely pathogenic
- See cases; Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.98
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (See cases; Citrullinemia type I; Citrullinemia)
- EBI: Likely pathogenic (in CTLN1)
- UniProt: Likely pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)