E147D (p.Glu147Asp) variant of KCNB1 (Q14721)
E147D (p.Glu147Asp) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26; not provided.
E147D (p.Glu147Asp) variant details
- p.Glu147Asp
- rs1323895781
- ClinGen CA408949488
- ClinVar RCV003749881
- ClinVar RCV004763740
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance