E11Q (p.Glu11Gln) variant of TMC1 (Q8TDI8)
E11Q (p.Glu11Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- ExAC rs757765718
- gnomAD rs757765718
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.24
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available