G14C (p.Gly14Cys) variant of KCNQ3 (O43525)
G14C (p.Gly14Cys) in KCNQ3 (O43525) 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 0.48 / 1. The record also includes population frequency data and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- TOPMed rs1357758074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.52
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available