K58E (p.Lys58Glu) variant of ASS1 (Argininosuccinate synthase)
K58E (p.Lys58Glu) 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, published literature, and structural context.
K58E (p.Lys58Glu) variant details
- p.Lys58Glu
- gnomAD 9-130454371-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.62
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available