L83M (p.Leu83Met) variant of ATP7B (Copper-transporting ATPase 2)
L83M (p.Leu83Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L83M (p.Leu83Met) variant details
- p.Leu83Met
- ExAC rs779919865
- gnomAD rs779919865
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.99
- PolyPhen-2 0.31
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available