R44W (p.Arg44Trp) variant of TMC1 (Q8TDI8)
R44W (p.Arg44Trp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- ExAC rs775411731
- TOPMed rs775411731
- gnomAD rs775411731
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.13
- ESM-1b 0.44
- AlphaMissense 0.57
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available