L93Q (p.Leu93Gln) variant of KCNQ3 (O43525)
L93Q (p.Leu93Gln) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L93Q (p.Leu93Gln) variant details
- p.Leu93Gln
- TOPMed rs1346150833
- gnomAD rs1346150833
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.69
- CADD 24.20
- PolyPhen-2 0.55
- SIFT 0.25
- Population evidence available
- Structural context available