E23G (p.Glu23Gly) variant of TMC1 (Q8TDI8)
E23G (p.Glu23Gly) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- TOPMed rs1317983939
- gnomAD rs1317983939
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- ESM-1b 0.33
- AlphaMissense 0.11
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available