E44K (p.Glu44Lys) variant of SCN2A (Q99250)
E44K (p.Glu44Lys) in SCN2A (Q99250) 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 0.47 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51842
- Ensembl rs1553564200
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.28
- CADD 21.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available