I51L (p.Ile51Leu) variant of ATP7A (Copper-transporting ATPase 1)
I51L (p.Ile51Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I51L (p.Ile51Leu) variant details
- p.Ile51Leu
- gnomAD X-77988272-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.27
- CADD 16.90
- PolyPhen-2 0.27
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available