R46I (p.Arg46Ile) variant of TMC1 (Q8TDI8)
R46I (p.Arg46Ile) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R46I (p.Arg46Ile) variant details
- p.Arg46Ile
- ExAC rs753879286
- TOPMed rs753879286
- gnomAD rs753879286
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available