L57P (p.Leu57Pro) variant of KCNQ3 (O43525)
L57P (p.Leu57Pro) 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 0.50 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs886062692
- ClinGen CA10624807
- ClinVar RCV000334828
- gnomAD rs886062692
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.50
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.37
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available