D58E (p.Asp58Glu) variant of KCNJ11 (Q14654)
D58E (p.Asp58Glu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- rs1237212288
- ClinGen CA379776022
- ClinVar RCV000517720
- TOPMed rs1237212288
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.06
- SIFT 0.00
- MutPred 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available