R25S (p.Arg25Ser) variant of KCNB1 (Q14721)
R25S (p.Arg25Ser) 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 0.74 / 1. The record also includes population frequency data and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- rs1479362052
- ClinGen CA408952161
- ClinVar RCV002781476
- TOPMed rs1479362052
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- CADD 27.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available