E59G (p.Glu59Gly) variant of TMC1 (Q8TDI8)
E59G (p.Glu59Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- TOPMed rs1826519855
- gnomAD rs1826519855
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available