E14D (p.Glu14Asp) variant of TMC1 (Q8TDI8)
E14D (p.Glu14Asp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 9-72688734-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available