A46E (p.Ala46Glu) variant of KCNQ3 (O43525)
A46E (p.Ala46Glu) 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 0.43 / 1. The record also includes population frequency data and structural context.
A46E (p.Ala46Glu) variant details
- p.Ala46Glu
- TOPMed rs1452782861
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.30
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available