E38D (p.Glu38Asp) variant of CHRNA4 (P43681)
E38D (p.Glu38Asp) in CHRNA4 (P43681) 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.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- gnomAD rs1165591521
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.11
- CADD 17.90
- PolyPhen-2 0.46
- SIFT 0.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)