G30E (p.Gly30Glu) variant of KCNQ3 (O43525)
G30E (p.Gly30Glu) 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 0.46 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- Ensembl rs1346206352
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.36
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.14
- CADD 23.70
- PolyPhen-2 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available