T45S (p.Thr45Ser) variant of TMC1 (Q8TDI8)
T45S (p.Thr45Ser) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- TOPMed rs1826518755
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available