L43L (p.Leu43Leu) variant of ATP7A (Copper-transporting ATPase 1)
L43L (p.Leu43Leu) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs1242120986
- gnomAD X-77923188-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 5.83
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available