M17V (p.Met17Val) variant of ATP7A (Copper-transporting ATPase 1)
M17V (p.Met17Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M17V (p.Met17Val) variant details
- p.Met17Val
- gnomAD X-77971690-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.64
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available