D2H (p.Asp2His) variant of ATP7A (Copper-transporting ATPase 1)
D2H (p.Asp2His) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
D2H (p.Asp2His) variant details
- p.Asp2His
- rs959587056
- gnomAD X-77923180-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 1.08
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Literature evidence available