E55Q (p.Glu55Gln) variant of TMC1 (Q8TDI8)
E55Q (p.Glu55Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E55Q (p.Glu55Gln) variant details
- p.Glu55Gln
- gnomAD 9-72694641-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- ESM-1b 0.89
- AlphaMissense 0.11
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available