E26K (p.Glu26Lys) variant of ASS1 (Argininosuccinate synthase)
E26K (p.Glu26Lys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs766668660
- ExAC rs766668660
- TOPMed rs766668660
- gnomAD rs766668660
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 0.41
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available