C4W (p.Cys4Trp) variant of MMAB (Q96EY8)
C4W (p.Cys4Trp) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
C4W (p.Cys4Trp) variant details
- p.Cys4Trp
- TOPMed rs1481415459
- gnomAD rs1481415459
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available