S71L (p.Ser71Leu) variant of ATP7B (Copper-transporting ATPase 2)
S71L (p.Ser71Leu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
S71L (p.Ser71Leu) variant details
- p.Ser71Leu
- Ensembl rs371286388
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.58
- MetaSVM -0.02
- SIFT 0.19
- Structural context available