L45Q (p.Leu45Gln) variant of KCNQ3 (O43525)
L45Q (p.Leu45Gln) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L45Q (p.Leu45Gln) variant details
- p.Leu45Gln
- ExAC rs769495455
- TOPMed rs769495455
- gnomAD rs769495455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available