R157H (p.Arg157His) variant of ASS1 (Argininosuccinate synthase)
R157H (p.Arg157His) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Citrullinemia; not provided; Citrullinemia type I. 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.
R157H (p.Arg157His) variant details
- p.Arg157His
- rs121908637
- ClinGen CA253830
- cosmic curated COSV61688
- ClinVar RCV000006697
- Conflicting interpretations
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in… (PMID 16475226)
- Cited in: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID 2358466)