H94Q (p.His94Gln) variant of CHRNA4 (P43681)
H94Q (p.His94Gln) 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 0.18 / 1. The record also includes population frequency data.
H94Q (p.His94Gln) variant details
- p.His94Gln
- ExAC rs754402670
- TOPMed rs754402670
- gnomAD rs754402670
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.23
- CADD 5.47
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available