V64I (p.Val64Ile) variant of ASS1 (Argininosuccinate synthase)
V64I (p.Val64Ile) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- rs556297791
- ClinGen CA5283195
- ClinVar RCV000669936
- ClinVar RCV001363462
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.21
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance (in CTLN1)
- UniProt: Uncertain significance (in CTLN1)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)