M17L (p.Met17Leu) variant of ATP7A (Copper-transporting ATPase 1)
M17L (p.Met17Leu) 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.
M17L (p.Met17Leu) variant details
- p.Met17Leu
- rs1557230179
- gnomAD X-77975511-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.00
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Structural context available
- Literature evidence available