R136H (p.Arg136His) variant of KCNB1 (Q14721)
R136H (p.Arg136His) 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 0.81 / 1. The record also includes population frequency data.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs1980515306
- ClinGen CA408949683
- cosmic curated COSV10592
- ClinVar RCV001935227
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- CADD 28.30
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)