E29D (p.Glu29Asp) variant of TMC1 (Q8TDI8)
E29D (p.Glu29Asp) in TMC1 (Q8TDI8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- ExAC rs770793343
- TOPMed rs770793343
- gnomAD rs770793343
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available