Q38E (p.Gln38Glu) variant of KCNE2 (Q9Y6J6)
Q38E (p.Gln38Glu) in KCNE2 (Q9Y6J6) is a missense change. 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.
Q38E (p.Gln38Glu) variant details
- p.Gln38Glu
- 1000Genomes rs554011844
- ExAC rs554011844
- TOPMed rs554011844
- gnomAD rs554011844
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.69
- CADD 22.60
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available