S20R (p.Ser20Arg) variant of TMC1 (Q8TDI8)
S20R (p.Ser20Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 9-72688752-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 19.70
- PolyPhen-2 0.94
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available