L87F (p.Leu87Phe) variant of KCNQ3 (O43525)
L87F (p.Leu87Phe) 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 0.57 / 1. The record also includes population frequency data and structural context.
L87F (p.Leu87Phe) variant details
- p.Leu87Phe
- rs752131052
- ClinGen CA4880986
- ClinVar RCV000793918
- ExAC rs752131052
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available