R61H (p.Arg61His) variant of KCNB1 (Q14721)
R61H (p.Arg61His) 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 0.76 / 1. The record also includes population frequency data and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs2122803651
- ClinGen CA408951313
- ClinVar RCV002588851
- Ensembl rs2122803651
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.73
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available