L45P (p.Leu45Pro) variant of KCNQ3 (O43525)
L45P (p.Leu45Pro) 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 0.46 / 1. The record also includes population frequency data and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- ExAC rs769495455
- TOPMed rs769495455
- gnomAD rs769495455
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.53
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available