E59D (p.Glu59Asp) variant of TMC1 (Q8TDI8)
E59D (p.Glu59Asp) 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 population frequency data, published literature, and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- gnomAD 9-72694655-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available