A58V (p.Ala58Val) variant of ATP7B (Copper-transporting ATPase 2)
A58V (p.Ala58Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- Ensembl rs1486854200
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.72
- SIFT 0.60
- Structural context available