K40K (p.Lys40Lys) variant of ATP7A (Copper-transporting ATPase 1)
K40K (p.Lys40Lys) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs1400740365
- gnomAD X-77971761-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 18.60
- Most common in the East Asian population (allele frequency 0.00056)
- Structural context available
- Literature evidence available