S46P (p.Ser46Pro) variant of CHRNA4 (P43681)
S46P (p.Ser46Pro) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- TOPMed rs1429009238
- gnomAD rs1429009238
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.24
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)