R127W (p.Arg127Trp) variant of ASS1 (Argininosuccinate synthase)
R127W (p.Arg127Trp) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R127W (p.Arg127Trp) variant details
- p.Arg127Trp
- rs771794639
- ClinGen CA5283260
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61689
- Pathogenic/Likely pathogenic
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)