G37C (p.Gly37Cys) variant of KCNQ3 (O43525)
G37C (p.Gly37Cys) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- ExAC rs761996139
- TOPMed rs761996139
- gnomAD rs761996139
- Uncertain significance
- Benign neonatal seizures; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.35
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available