Q27K (p.Gln27Lys) variant of ASS1 (Argininosuccinate synthase)
Q27K (p.Gln27Lys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q27K (p.Gln27Lys) variant details
- p.Gln27Lys
- 1000Genomes rs543339767
- ExAC rs543339767
- TOPMed rs543339767
- gnomAD rs543339767
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.60
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available