G37S (p.Gly37Ser) variant of KCNQ3 (O43525)
G37S (p.Gly37Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- rs761996139
- ClinGen CA372292881
- ClinVar RCV003750277
- ExAC rs761996139
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available