M119T (p.Met119Thr) variant of ATP7B (Copper-transporting ATPase 2)
M119T (p.Met119Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
M119T (p.Met119Thr) variant details
- p.Met119Thr
- Ensembl rs2140105193
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.63
- MetaSVM 0.03
- SIFT 1.00
- Structural context available