G14S (p.Gly14Ser) variant of KCNQ3 (O43525)
G14S (p.Gly14Ser) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1357758074
- ClinGen CA372293017
- ClinVar RCV002273406
- TOPMed rs1357758074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.44
- CADD 22.80
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available