V28M (p.Val28Met) variant of TMC1 (Q8TDI8)
V28M (p.Val28Met) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- gnomAD 9-72694560-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.03
- ESM-1b 0.02
- AlphaMissense 0.10
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available