E26Q (p.Glu26Gln) variant of TMC1 (Q8TDI8)
E26Q (p.Glu26Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- gnomAD 9-72694554-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.04
- ESM-1b 0.44
- AlphaMissense 0.13
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available