N49D (p.Asn49Asp) variant of CHRNA4 (P43681)
N49D (p.Asn49Asp) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- TOPMed rs2068773820
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.39
- CADD 27.70
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)