E51Q (p.Glu51Gln) variant of KCNQ3 (O43525)
E51Q (p.Glu51Gln) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- TOPMed rs1398300403
- gnomAD rs1398300403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.42
- CADD 24.10
- PolyPhen-2 0.52
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available