G78E (p.Gly78Glu) variant of TMC1 (Q8TDI8)
G78E (p.Gly78Glu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G78E (p.Gly78Glu) variant details
- p.Gly78Glu
- gnomAD 9-72694711-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 23.90
- PolyPhen-2 0.60
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available