R74K (p.Arg74Lys) variant of TMC1 (Q8TDI8)
R74K (p.Arg74Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R74K (p.Arg74Lys) variant details
- p.Arg74Lys
- gnomAD 9-72694699-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available