H42Q (p.His42Gln) variant of KCNB1 (Q14721)
H42Q (p.His42Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
H42Q (p.His42Gln) variant details
- p.His42Gln
- rs1568658526
- ClinGen CA408951708
- ClinVar RCV000704548
- Ensembl rs1568658526
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available