D53E (p.Asp53Glu) variant of TMC1 (Q8TDI8)
D53E (p.Asp53Glu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- TOPMed rs1222130340
- gnomAD rs1222130340
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.14
- Structural context available