V7M (p.Val7Met) variant of ASS1 (Argininosuccinate synthase)
V7M (p.Val7Met) 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 type I; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- rs149938546
- ClinGen CA5283127
- ClinVar RCV000706172
- ClinVar RCV001553607
- Conflicting interpretations
- not provided; Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)