W29S (p.Trp29Ser) variant of ATP7B (Copper-transporting ATPase 2)
W29S (p.Trp29Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
W29S (p.Trp29Ser) variant details
- p.Trp29Ser
- ExAC rs577406734
- TOPMed rs577406734
- gnomAD rs577406734
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.13
- SIFT 0.34
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available