E19D (p.Glu19Asp) variant of TMC1 (Q8TDI8)
E19D (p.Glu19Asp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- Ensembl rs1588032894
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available