E45K (p.Glu45Lys) variant of ASS1 (Argininosuccinate synthase)
E45K (p.Glu45Lys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs766880501
- ClinGen CA5283162
- ClinVar RCV003062803
- ClinVar RCV004526960
- Uncertain significance
- Citrullinemia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Citrullinemia; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available