R34H (p.Arg34His) variant of KCNB1 (Q14721)
R34H (p.Arg34His) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs2122803857
- ClinGen CA408951919
- ClinVar RCV002198075
- Ensembl rs2122803857
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.38
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Benign
- UniProt: Benign
- Population evidence available