R77G (p.Arg77Gly) variant of TMC1 (Q8TDI8)
R77G (p.Arg77Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R77G (p.Arg77Gly) variant details
- p.Arg77Gly
- gnomAD 9-72694707-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available