G78G (p.Gly78Gly) variant of TMC1 (Q8TDI8)
G78G (p.Gly78Gly) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G78G (p.Gly78Gly) variant details
- p.Gly78Gly
- gnomAD 9-72694712-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available