G22C (p.Gly22Cys) variant of CHRNA4 (P43681)
G22C (p.Gly22Cys) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD rs1208604806
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.31
- CADD 14.50
- PolyPhen-2 0.33
- SIFT 0.20
- Most common in the South Asian population (allele frequency 0.00021)