R42W (p.Arg42Trp) variant of TMC1 (Q8TDI8)
R42W (p.Arg42Trp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- TOPMed rs1826518521
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available