E11D (p.Glu11Asp) variant of TMC1 (Q8TDI8)
E11D (p.Glu11Asp) 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, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 9-72688725-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.60
- PolyPhen-2 0.90
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available