R74S (p.Arg74Ser) variant of TMC1 (Q8TDI8)
R74S (p.Arg74Ser) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R74S (p.Arg74Ser) variant details
- p.Arg74Ser
- gnomAD 9-72694700-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 7.81
- PolyPhen-2 0.02
- SIFT 0.98
- Population evidence available
- Structural context available
- Literature evidence available