P58T (p.Pro58Thr) variant of TMC1 (Q8TDI8)
P58T (p.Pro58Thr) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- gnomAD 9-72694650-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.57
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available