R11C (p.Arg11Cys) variant of KCNB1 (Q14721)
R11C (p.Arg11Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs1042622178
- ClinGen CA315158665
- ClinVar RCV003749167
- ClinVar RCV003992780
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.58
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available