G16W (p.Gly16Trp) variant of KCNQ2 (O43526)
G16W (p.Gly16Trp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- rs776118228
- ClinGen CA9958902
- ClinVar RCV006558071
- ExAC rs776118228
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- CADD 27.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available