E62K (p.Glu62Lys) variant of ASS1 (Argininosuccinate synthase)
E62K (p.Glu62Lys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- TOPMed rs1230404130
- gnomAD rs1230404130
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.70
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available