H38H (p.His38His) variant of ATP7A (Copper-transporting ATPase 1)
H38H (p.His38His) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H38H (p.His38His) variant details
- p.His38His
- rs782467985
- gnomAD X-77971797-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 11.00
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available
- Literature evidence available