E44K (p.Glu44Lys) variant of ATP7A (Copper-transporting ATPase 1)
E44K (p.Glu44Lys) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- NCI-TCGA TCGA novel
- gnomAD rs1557231560
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.46
- SIFT 0.15
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available