T91P (p.Thr91Pro) variant of ASS1 (Argininosuccinate synthase)
T91P (p.Thr91Pro) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T91P (p.Thr91Pro) variant details
- p.Thr91Pro
- rs769018733
- ClinGen CA5283213
- ClinVar RCV003058237
- ClinVar RCV003459721
- Pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Cited in: Improved standards for prenatal diagnosis of citrullinemia. (PMID 24889030)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)