Q52E (p.Gln52Glu) variant of KCNQ3 (O43525)
Q52E (p.Gln52Glu) 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 0.62 / 1. The record also includes structural context.
Q52E (p.Gln52Glu) variant details
- p.Gln52Glu
- rs1327292650
- ClinGen CA372292788
- ClinVar RCV000595638
- TOPMed rs1327292650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.07
- MetaLR 0.81
- MetaSVM 0.61
- PolyPhen-2 0.28
- SIFT 1.00
- MutPred 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available