R11S (p.Arg11Ser) variant of KCNB1 (Q14721)
R11S (p.Arg11Ser) 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 0.65 / 1. The record also includes population frequency data and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- rs1042622178
- ClinGen CA408952450
- ClinVar RCV003340791
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.57
- CADD 26.90
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available