G47V (p.Gly47Val) variant of CHRNA4 (P43681)
G47V (p.Gly47Val) 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 0.55 / 1. The record also includes population frequency data.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- ExAC rs764990637
- TOPMed rs764990637
- gnomAD rs764990637
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.41
- CADD 24.80
- PolyPhen-2 0.61
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)