E68G (p.Glu68Gly) variant of TMC1 (Q8TDI8)
E68G (p.Glu68Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E68G (p.Glu68Gly) variant details
- p.Glu68Gly
- 1000Genomes rs564668916
- ExAC rs564668916
- TOPMed rs564668916
- gnomAD rs564668916
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the 1KG:PJL population (allele frequency 0.01)
- Structural context available