E27D (p.Glu27Asp) variant of TMC1 (Q8TDI8)
E27D (p.Glu27Asp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD 9-72694559-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.50
- PolyPhen-2 0.07
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available