D75N (p.Asp75Asn) variant of CHRNA4 (P43681)
D75N (p.Asp75Asn) 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.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- TOPMed rs930512598
- gnomAD rs930512598
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)