R51L (p.Arg51Leu) variant of KCNB1 (Q14721)
R51L (p.Arg51Leu) 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 0.85 / 1. The record also includes population frequency data and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- rs2122803715
- ClinGen CA408951544
- ClinVar RCV001992258
- 1000Genomes rs2122803715
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.88
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available