V69A (p.Val69Ala) variant of ASS1 (Argininosuccinate synthase)
V69A (p.Val69Ala) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V69A (p.Val69Ala) variant details
- p.Val69Ala
- rs771594651
- ClinGen CA5283197
- ClinVar RCV002221689
- ClinVar RCV003475100
- Conflicting interpretations
- not provided; Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.90
- CADD 27.10
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)
- Cited in: Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients… (PMID 11941481)