E44V (p.Glu44Val) variant of ATP7A (Copper-transporting ATPase 1)
E44V (p.Glu44Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E44V (p.Glu44Val) variant details
- p.Glu44Val
- gnomAD X-77975515-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.73
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.023)
- Structural context available
- Literature evidence available