T85R (p.Thr85Arg) variant of CHRNA4 (P43681)
T85R (p.Thr85Arg) 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 0.78 / 1. The record also includes population frequency data.
T85R (p.Thr85Arg) variant details
- p.Thr85Arg
- ExAC rs199699339
- TOPMed rs199699339
- gnomAD rs199699339
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.92
- CADD 25.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)