G71S (p.Gly71Ser) variant of KCNQ3 (O43525)
G71S (p.Gly71Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- rs1822519358
- ClinGen CA372292673
- ClinVar RCV003749873
- gnomAD rs1822519358
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available