M17I (p.Met17Ile) variant of ATP7A (Copper-transporting ATPase 1)
M17I (p.Met17Ile) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
M17I (p.Met17Ile) variant details
- p.Met17Ile
- rs2149075975
- gnomAD X-77975511-A-ATT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.19
- Most common in the 1KG:ASW population (allele frequency 0.042)
- Structural context available
- Literature evidence available