R272H (p.Arg272His) variant of ASS1 (Argininosuccinate synthase)
R272H (p.Arg272His) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia type I; 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.
R272H (p.Arg272His) variant details
- p.Arg272His
- rs768215008
- ClinGen CA375229492
- cosmic curated COSV61688
- ClinVar RCV003226684
- Pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.96
- CADD 27.10
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)