L88P (p.Leu88Pro) variant of KCNQ3 (O43525)
L88P (p.Leu88Pro) 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 0.70 / 1. The record also includes population frequency data and structural context.
L88P (p.Leu88Pro) variant details
- p.Leu88Pro
- rs1051073307
- ClinGen CA372292574
- ClinVar RCV002023579
- TOPMed rs1051073307
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.05
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available