K57E (p.Lys57Glu) variant of ASS1 (Argininosuccinate synthase)
K57E (p.Lys57Glu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- ExAC rs779222693
- gnomAD rs779222693
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.58
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available