G16C (p.Gly16Cys) variant of KCNQ3 (O43525)
G16C (p.Gly16Cys) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- TOPMed rs1293079336
- gnomAD rs1293079336
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.49
- CADD 25.20
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.1e-05)
- Structural context available