R77T (p.Arg77Thr) variant of TMC1 (Q8TDI8)
R77T (p.Arg77Thr) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R77T (p.Arg77Thr) variant details
- p.Arg77Thr
- gnomAD 9-72694708-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available