A26D (p.Ala26Asp) variant of CHRNA4 (P43681)
A26D (p.Ala26Asp) in CHRNA4 (P43681) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- ExAC rs761362001
- TOPMed rs761362001
- gnomAD rs761362001
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.34
- CADD 1.80
- PolyPhen-2 0.22
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)