S37R (p.Ser37Arg) variant of TMC1 (Q8TDI8)
S37R (p.Ser37Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- gnomAD 9-72694589-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.67
- CADD 14.10
- PolyPhen-2 0.17
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available