S88T (p.Ser88Thr) variant of ATP7B (Copper-transporting ATPase 2)
S88T (p.Ser88Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
S88T (p.Ser88Thr) variant details
- p.Ser88Thr
- Ensembl rs2140109311
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.02
- SIFT 0.23
- Structural context available