R39W (p.Arg39Trp) variant of CHRNA4 (P43681)
R39W (p.Arg39Trp) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- TOPMed rs1405224423
- gnomAD rs1405224423
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.58
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)