D40G (p.Asp40Gly) variant of ATP7B (Copper-transporting ATPase 2)
D40G (p.Asp40Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- cosmic curated COSV10806
- TOPMed rs1952041414
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.84
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.94
- MetaSVM 1.11
- SIFT 0.06
- Structural context available