Q72E (p.Gln72Glu) variant of CHRNA4 (P43681)
Q72E (p.Gln72Glu) in CHRNA4 (P43681) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.79
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)