A258V (p.Ala258Val) variant of ASS1 (Argininosuccinate synthase)
A258V (p.Ala258Val) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A258V (p.Ala258Val) variant details
- p.Ala258Val
- rs753078725
- ClinGen CA5283455
- ClinVar RCV000669784
- ClinVar RCV002531238
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.72
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)