K7E (p.Lys7Glu) variant of KCNB1 (Q14721)
K7E (p.Lys7Glu) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- rs936778119
- ClinGen CA315158686
- ClinVar RCV000700655
- TOPMed rs936778119
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.61
- CADD 26.90
- PolyPhen-2 0.51
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available