G67R (p.Gly67Arg) variant of CHRNA4 (P43681)
G67R (p.Gly67Arg) in CHRNA4 (P43681) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- ExAC rs750325388
- TOPMed rs750325388
- gnomAD rs750325388
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)