A11E (p.Ala11Glu) variant of KCNQ3 (O43525)
A11E (p.Ala11Glu) 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 0.56 / 1. The record also includes population frequency data and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- Ensembl rs1822534206
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.43
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available