G5V (p.Gly5Val) variant of ASS1 (Argininosuccinate synthase)
G5V (p.Gly5Val) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs201700775
- TOPMed rs201700775
- gnomAD rs201700775
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- CADD 24.90
- PolyPhen-2 0.40
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available